申請疾患名(英名) 申請疾患名(和名) 1 Aarskog …

Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans ... [Nevoid Basal Cell Carcinoma Syndrome] PTCH 小児科 BASAL CELL NEVUS SYNDROME,...

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臨床遺伝子診断項目᳃Gene Test A-E

6/1/2007

GENE TEST記載疾患名 1 2

Aarskog-Scott syndrome Achondrogenesis

申請診療科

FDGL

小児科

Aarskog-Scott syndrome

申請疾患名(和名) ᶴ᷂᳐᷋᷅ᳩ᷋᷅ᷕᷚ症候群

COL2A1

小児科

achondrogenesis

軟骨無発生症

小児科

achondroplasia

軟骨無形成症

GENE TEST記載遺伝子名

申請疾患名(英名)

Achondrogenesis Type 1A Type II Collagenopathies Achondrogenesis Type 2 Kniest Dysplasia Spondyloepiphyseal Dysplasia Spondyloepiphyseal Dysplasia, Congenita Stickler Syndrome Type I 3

Achondroplasia Achondroplasia

FGFR3

Pseudoachondroplasia

COMP

Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN)

FGFR3

4

Adenosine Deaminase Deficiency

ADA

小児科

ADENOSINE DEAMINASE DEFICIENCY

ᶴᷙᷠ᷉ḅᷙᶴ᷎ᷱᷜ᳐欠損症

5

Adenylosuccinase Deficiency

ADSL

小児科

ADENYLOSUCCINASE DEFICIENCY

ᶴ᷎᷿ᷙᷝ᷋᷁᷉ᷜ᳐欠損症

6

Adrenoleukodystrophy

小児科

ADRENOLEUKODYSTROPHY

副腎白質᷊᷿᷋ᷚᷧᶵ᳐

小児科

ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

小児科

PSEUDONEONATAL ADRENOLEUKODYSTROPHY

副腎白質᷊᷿᷋ᷚᷧᶵ᳐᳀ 常染色体性新生児型 副腎白質᷊᷿᷋ᷚᷧᶵ᳐᳀偽新生児型

ALDOA

小児科

aldolase deficiency

ᶴ᷎᷽ᷛ᷻᳐欠損症

HGD

小児科

ALKAPTONURIA

ᶴ᷽ᶽᷩᷚḅ尿症

眼科

Alport syndrome

ᶴ᷽ᷯ᳐ᷚ症候群

小児科

Epstein syndrome

ᶺᷩ᷋᷑ᶶḅ 症候群

小児科

Fechtner syndrome

ᷧᶹ᷁ᷚᷜ᳐症候群

神経内科 精神科神経科

familial Alzheimer disease

家族性ᶴ᷽ᷖᷡᶶᷰ᳐病

小児科

congenital amegakaryocytic thrombocytopenia

先天性無巨核芽球性血小板減少症

小児科

AMYLOID POLYNEUROPATHY,FAMILIAL

家族性ᶴ᷿ᷱᶶ᷿᷷ᷛᷯᷝ᳐ᷣᷓ᳐᷼

小児科

AMYLOIDOSIS, FAMILIAL VISCERAL

家族性ᶴ᷿ᷱᶶᷛ᳐᷉᷋

神経内科

familial amyloid polyneuropathy

家族性ᶴ᷿ᷱᶶ᷿᷷ᷛᷯᷝ᳐ᷣᷓ᳐᷼

familial amyotrophic lateral sclerosis

家族性筋萎縮性側索硬化症

小児科

Angelman syndrome

ᶴḅ᷊ᶹ᷽ᷰḅ症候群

眼科

aniridia

無虹彩

WAGR syndrome

WAGR症候群

眼科

anterior segment mesenchymal dysgenesis

前眼部間葉組織異形成

小児科

Infantile spasms, West syndrome

点頭ᶅᶲᵪᶲᲾᶸᶺ᷋ᷚ症候群

Peroxisome Biogenesis Disorders (PBD)

(別項参照)

Zellweger Syndrome Spectrum Neonatal Adrenoleukodystrophy Adrenoleukodystrophy, X-Linked

ABCD1

Adrenomyeloneuropathy Pseudoneonatal Adrenoleukodystrophy 7

Aldolase A Deficiency

8

Alkaptonuria

9

Alport Syndrome

ACOX1

Alport Syndrome Alport Syndrome, Autosomal Recessive Alport Syndrome, X-Linked

10

COL4A3,COL4A4 COL4A5

Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia [Fechtner Syndrome]

MYH9

Alport Syndrome with Macrothrombocytopenia [Epstein Syndrome]

MYH9

Alzheimer Disease Alzheimer Disease Early-Onset Familial Alzheimer Disease Alzheimer Disease Type 1

APP

Alzheimer Disease Type 3

PSEN1

Alzheimer Disease Type 4

PSEN2

Late-Onset Familial Alzheimer Disease Alzheimer Disease Type 5 Alzheimer Disease Type 2 [Apolipoprotein E Genotyping] 11

Amegakaryocytic Thrombocytopenia, Congenital

12

Amyloidosis Transthyretin Amyloidosis

AD5 APOE MPL TTR

Familial Amyloid Cardiomyopathy Familial Amyloid Polyneuropathy Type 1(Portuguese-Swedish-Japanese type) Familial Amyloid Polyneuropathy Type II (Indiana/Swiss or Maryland/German type) Familial Oculoleptomeningeal Amyloidosis Leptomeningeal Amyloidosis Urticaria-Deafness-Amyloidosis Syndrome [Muckle-Wells Syndrome] Amyloidosis V 13

CIAS1 GSN 小児科

Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis with Frontotemporal Dementia SOD1-Related Amyotrophic Lateral Sclerosis

14

Angelman syndrome

15

Aniridia Isolated Aniridia WAGR Syndrome [Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome]

16

Anterior Segment Mesenchymal Dysgenesis

17

ARX-Related Disorders

神経内科

ALS2,ALS3,ALS4,ALS5,ALS6,ALS7 SOD1(=ALS1) UBE3A PAX6

小児科

眼科

PAX6,WT1 FOXE3.PITX2,PITX3 ARX

Nonspecific X-Linked Mental Retardation-36 Partington X-Linked Mental Retardation Syndrome X-Linked Infantile Spasm Syndrome X-Linked Lissencephaly with Ambiguous Genitalia

1 / 5 ᷊ᷬ᳐

臨床遺伝子診断項目᳃Gene Test A-E

18

19

6/1/2007

Ataxia-Telangiectasia Ataxia-Telangiectasia

ATM

Ataxia-Telangiectasia Variant 1 (ATV1) [Nijmegen Breakage Syndrome]

NBS1

Atelosteogenesis Sulfate Transporter-Related Osteochondrodysplasia

小児科

Ataxia-telangiectasia

毛細血管拡張性失調症

小児科

Atelosteogenesis

骨発生不全症

小児科

MENKES SYNDROME

ᷳḅ᷃᷋症候群

SLC26A2(=DTDST)

Achondrogenesis Type 1B Atelosteogenesis Type 2 Diastrophic Dysplasia Multiple Epiphyseal Dysplasia, Recessive 20

ATP7A-Related Copper Transport Disorders

ATP7A

Menkes Disease 21

Azoospermia [Y Chromosome Infertility]

泌尿器科

azoospermia᳀oligozoospermia

無精子症᳀乏精子症

22

Basal Cell Nevus Syndrome (BCNS) [Nevoid Basal Cell Carcinoma Syndrome]

PTCH

小児科

BASAL CELL NEVUS SYNDROME, Gorlin syndrome

23

Beckwith-Wiedemann Syndrome

BWS

小児科

Beckwith-Wiedemann syndrome

母斑性基底細胞癌症候群ᲾGorlin症候群 ᷫᷕ᷁ᶸᶵ᷌ᳩᶸᶵ᳐ᷛᷰḅ症候群

24

Best Vitelliform Macular Dystrophy

眼科

Best disease

ᷫ᷋ᷚ病

25

Biotin-Responsive Multiple Carboxylase Deficiencies

小児科

BIOTINIDASE DEFICIENCY

ᷥᶼ᷎ᷓᷜ᳐欠損症

小児科

MULTIPLE CARBOXYLASE DEFICIENCY

ᷥᶼᷓḅ反応性᷽᷽ᷰᷓᷩᶽ᷽ᷮᶿ᷎᷉᷻᳐欠損症

皮膚科

ᷨ᷻ᶸ症候群 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES

Juvenile Multiple Carboxylase Deficiency [Biotinidase Deficiency] Holocarboxylase Synthetase Deficiency

DAZ,DDX3Y,USP9Y,RBMY1A1

VMD2 BTD HLCS

256 Blau syndrome Early-Onset Sarcoidosis 26

Bloom Syndrome

27

BRCA1 and BRCA2 Hereditary Breast/Ovarian Cance

Early-onset sarcoidosis

若年発症᷽᷇᷅ᶶᷛ᳐᷉᷋

小児科

Bloom syndrome

᷽ᷨ᳐ᷲ症候群

第一外科

familial breast cancer

家族性乳癌

CARD15/NOD2 BLM

Breast cancer [BRCA1 Hereditary Breast/Ovarian Cancer]

BRCA1

Breast cancer [BRCA2 Hereditary Breast/Ovarian Cancer]

BRCA2

28

Bruton's Agammaglobulinemia [X-Linked Agammaglobulinemia]

BTK

小児科

Bruton agammaglobulinemia

᷽ᷨᷚḅ型無ᶾḅ᷂᷿ᷰᷨ᷼ḅ血症

29

Campomelic Dysplasia

SOX9

小児科

campomelic dysplasia

屈曲肢異形成症

30

Carnitine Deficiency, Systemic

SLC22A5(=OCTN2)

小児科

CARNITINE DEFICIENCY, SYSTEMIC PRIMARY

原発性ᶽ᷽ᷝᷓḅ欠損症

31

Carnitine Palmitoyltransferase Deficiency

小児科

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

ᶽ᷽ᷝᷓḅ᷽ᷣᷱᷚᶶ᷽ᷚ᷻ḅ᷋ᷧᶹ᷎᷻᳐ I 欠損症

小児科

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY

ᶽ᷽ᷝᷓḅ᷽ᷣᷱᷚᶶ᷽ᷚ᷻ḅ᷋ᷧᶹ᷎᷻᳐ II 欠損症

小児科

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY

眼科

anteriorpolar cataract

ᶽ᷽ᷝᷓḅᳩᶴ᷽᷉ᶽ᷽ᷝᷓḅᷚ᷻ḅ᷿᷋ᶽ᷎᳐ 欠損症 先天極白内障

Carnitine Palmitoyltransferase IA (liver) Deficiency

CPT1A

Carnitine Palmitoyltransferase IB (muscle) Deficiency

CPY1B

Carnitine Palmitoyltransferase II Deficiency 32

Carnitine-Acylcarnitine Translocase Deficiency

33

Cataract

CPT2 SLC25A20 CTAA1,CTAA2

眼科

congenital cataract

先天白内障

Cataract, Crystalline Aculeiform

CRYGD

眼科

pulverulent zonular cataract

先天層間白内障

Cataracts, Autosomal Dominant

FOXE3,PITX3

小児科

Cerebrotendinous Xanthomatosis

脳腱黄色腫症

泌尿器科

absent vas deferens

精管欠損症

小児科

Cystic fibrosis

嚢胞性線維症

神経内科 小児科

Charcot-Marie-Tooth disease

小児科

Dejerine-Sottas disease(Charcot-Marie-Tooth disease, 1A/1B/4)

᷽᷉᷵᷅-ᷰ᳐᷼-ᷚᶷ᳐᷋病 ᷊ᷙ᷵᷼ḅᳩ᷏᷑᷋病

Cataract, Anterior Polar

Peters Anomaly with Cataract Poikiloderma Atrophicans and Cataract [Rothmund-Thomson Syndrome] Zonular Pulverulent Cataract 34

Cerebrotendinous Xanthomatosis

35

CFTR-Related Disorders

FOXE3,PITX2,PITX3,PAX6 RECQL4 GJA8 CYP27A1 CFTR

Congenital Bilateral Absence of the Vas Deferens Cystic Fibrosis 36

Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Neuropathy Type 1 Charcot-Marie-Tooth Disease Type 1A

PMP22

Charcot-Marie-Tooth Disease Type 1B

MPZ

Charcot-Marie-Tooth Disease Type 1C

LITAF

Charcot-Marie-Tooth Disease Type 1D

EGR2

Charcot-Marie-Tooth Disease Type 1E

PMP22

Charcot-Marie-Tooth Disease, Axonal Type [Charcot-Marie-Tooth Neuropathy Type 2] Charcot-Marie-Tooth Neuropathy Type 2A

KIF1B,MFN2

Charcot-Marie-Tooth Neuropathy Type 2B

RAB7

Charcot-Marie-Tooth Neuropathy Type 2B1

LMNA

Charcot-Marie-Tooth Neuropathy Type 2D

GARS

Charcot-Marie-Tooth Neuropathy Type 2E/1F

NEFL

Charcot-Marie-Tooth Neuropathy Type 2F

HSPB1

Charcot-Marie-Tooth Disease, X-Linked [Charcot-Marie-Tooth Neuropathy Type X]

GJB1

Charcot-Marie-Tooth Neuropathy Type 4 Charcot-Marie-Tooth Neuropathy Type 4A

GDAP1

Charcot-Marie-Tooth Neuropathy Type 4B1

MTMR2

Charcot-Marie-Tooth Neuropathy Type 4B2

MTMR13

Charcot-Marie-Tooth Neuropathy Type 4C

KIAA1985

2 / 5 ᷊ᷬ᳐

臨床遺伝子診断項目᳃Gene Test A-E

6/1/2007

Charcot-Marie-Tooth Neuropathy Type 4D

NDRG1

Charcot-Marie-Tooth Neuropathy Type 4E

EGR2

Charcot-Marie-Tooth Neuropathy Type 4F 37

Chediak-Higashi Syndrome

38

Chondrodysplasia

PRX CHS1

Chediak-Higashi syndrome

小児科

Blomstrand chondrodysplasia

ᷓᶹᷙᶵᶴ᷁-東 症候群 ᷿ᷨᷲ᷋ᷚ᷻ḅᷛ軟骨異形成症

小児科

metaphyseal chondrodysplasia

骨幹端軟骨異形成症

Rhizomelic Chondrodysplasia Punctata Type 1

PEX7

小児科

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1

肢根型点状軟骨異形成症Ჽ1型

Rhizomelic Chondrodysplasia Punctata Type 2

GNPAT

小児科

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2

肢根型点状軟骨異形成症Ჽ2型

Rhizomelic Chondrodysplasia Punctata Type 3

AGPS

小児科

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3

EBP

小児科

Cartilage-Hair hypoplasia

肢根型点状軟骨異形成症Ჽ3型 軟骨毛髪低形成症

神経内科

familial chorea

家族性舞踏病

Rhizomelic Chondrodysplasia Punctata Spectrum

Chondrodysplasia Punctata, X-Linked Dominant Chondrodysplasia, Blomstrand Type Metaphyseal Chondrodysplasia, McKusick Type [Cartilage-Hair Hypoplasia]

39

小児科

PTHR1 RMRP

Metaphyseal Chondrodysplasia, Schmid Type

COL10A1

Pierre Robin Syndrome with Fetal Chondrodysplasia [Weissenbacher-Zweymuller Syndrome]

COL11A2

Chorea Benign Hereditary Chorea

TITF1

Mitochondrial Disorders Chorea and Dementia Huntington Chorea [Huntington Disease] Chorea-Acanthocytosis [Choreoacanthocytosis] 40

Choroideremia

41

Chronic Granulomatous Disease

254 Chronic Infantile Neurological Cutaneous and Articular Syndrome 42

Cockayne Syndrome

43

Coffin-Lowry Syndrome

44

Cohen Syndrome

45

Congenital Adrenal Hyperplasia

HD VPS13A 眼科

choroideremia

CYBA,CYBB,NCF1,NCF2

小児科

chronic granulomatous disease

脈絡膜欠如症 慢性肉芽腫症

CHM(=REP1) CIAS1

小児科

Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome

CINCA症候群

CKN1,ERCC6

小児科

Cockayne syndrome

᷅᷃ᶶḅ症候群

RPS6KA3(=RSK2)

小児科

Coffin-Lowry syndrome

᷅ᷧᶵḅᳩ᷿ᶸ᷼ᶵ症候群

COH1

小児科

Cohen syndrome

᷅᳐ᷪḅ症候群

第二内科

11beta-hydroxylase deficiency

11Ḣ-᷿ᷤᷛᶿ᷎᷉᷻᳐欠損症

11 beta Hydroxylase Deficiency

CYP11B1

第二内科

21-hydroxylase deficiency

Congenital Adrenal Hyperplasia, 21-Hydroxylase Deficient [21-Hydroxylase Deficiency]

CYP21A2

小児科

congenital adrenal hyperplasia

21-᷿ᷤᷛᶿ᷎᷉᷻᳐欠損症 先天性副腎皮質過形成症

小児科

congenital adrenal hypoplasia

先天性副腎低形成症

Lipid Congenital Adrenal Hyperplasia [Cholesterol Desmolase Deficiency] 46

MTTW

Congenital Adrenal Hypoplasia [X-Linked Adrenal Hypoplasia Congenita]

STAR NROB1

Complex Glycerol Kinase Deficiency Isolated X-Linked Adrenal Hypoplasia Congenita 47

48

小児科

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ib

先天性糖化異常症 Ib型

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia [Congenital Disorder of Glycosylation Ia]

PMM2

小児科

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia

先天性糖化異常症 Ia型

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ib [Congenital Disorder of Glycosylation Ib]

MPI

小児科

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic

先天性糖化異常症 Ic型

Carbohydrate-Deficient Glycoprotein Syndrome, Type V [Congenital Disorder of Glycosylation Ic]

ALG6

小児科

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id

先天性糖化異常症 Id型

Congenital Disorder of Glycosylation Id

ALG3

神経内科

congenital muscular dystrophy

先天性筋᷊᷿᷋ᷚᷧᶵ᳐

小児科

congenital neutropenia

先天性好中球減少症

小児科

Wiskott-Aldrich syndrome

ᶸᶵ᷋᷅ᷕᷚ-ᶼ᷽ᷛᷕᷤ᷼症候群

眼科

latticedystrophy ᳖GroenouwtypeIII᳗

格子状角膜変性

Congenital Disorders of Glycosylation

Congenital Disorder of Glycosylation Ie

DPM1

Congenital Disorder of Glycosylation If

MPDU1

Congenital Disorder of Glycosylation Ig

ALG12

Congenital Disorder of Glycosylation Ih

ALG8

Congenital Disorder of Glycosylation Ii

ALG2

Congenital Muscular Dystrophy Congenital Muscular Dystrophy Type 1C

49

FRKP

Congenital Muscular Dystrophy with Early Spine Rigidity

SEPN1

Congenital Muscular Dystrophy with Merosin Deficiency

LAMA2

Fukuyama Congenital Muscular Dystrophy

FCMD

Muscle-Eye-Brain Disease

MEB

Walker-Warburg Syndrome

POMT1

Congenital Neutropenia ELA2-Related Neutropenia

ELA2

Cyclic Neutropenia Severe Congenital Neutropenia WAS-Related Disorders

WAS

Wiskott-Aldrich Syndrome X-Linked Severe Congenital Neutropenia X-Linked Thrombocytopenia 50

Corneal Dystrophy Lattice Corneal Dystrophy Type I

TGFBI

Granular Corneal Dystrophy

TGFBI

Keratosis Palmoplantaris with Corneal Dystrophy [Tyrosinemia Type II] Avellino Corneal Dystroph

TAT TGFBI

3 / 5 ᷊ᷬ᳐

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Corneal Dystrophy, Gelatinous Drop-Like

6/1/2007

M1S1

51

Cystathioninuria

CTH

小児科

CYSTATHIONINURIA

᷉᷋᷑ᷓᶼᷝḅ尿症

52

Cystinosis

CTNS

小児科

CYSTINOSIS

᷉᷋ᷓᷠ᳐᷉᷋

泌尿器科 小児科

Cystinuria

᷉᷋ᷓḅ尿症

耳鼻咽喉科

congenital deafness(autosomal dominant)

先天性難聴᳖優性遺伝性᳗

Intermediate Cystinosis Nephropathic Cystinosis Non-Nephropathic Cystinosis 53

Cystinuria

54

Deafness

SLC3A1, SLC7A9

Autosomal Dominant Nonsyndromic Sensorineural Deafness [Nonsyndromic Low-Frequency Sensorineural Hearing Loss]

WFS1

耳鼻咽喉科

congenital deafness(autosomal recessibe)

先天性難聴᳖劣性遺伝性᳗

Autosomal Dominant Nonsyndromic Sensorineural Deafness 17 [DFNA 17]

MYH9

耳鼻咽喉科

congenital deafness(X linked)

神経内科

hereditary deafness

先天性難聴᳖X連鎖性᳗ 遺伝性難聴

nonsyndromic sensorineural deafness

非症候性感音性難聴

Chondrodystrophy with Sensorineural Deafness [Otospondylomegaepiphyseal Dysplasia] Deafness and Mutilating Keratoderma [Vohwinkel Syndrome] Deafness-Dystonia-Optic Neuronopathy Syndrome Diabetes, Optic Atrophy, Deafness [Wolfram Syndrome]

COL11A2 GJB2

小児科

耳鼻咽喉科

TIMM8A WFS1

Hereditary Hearing Loss and Deafness Nonsyndromic Hearing Loss and Deafness Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant DFNA 3 Nonsyndromic Hearing Loss and Deafness GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness GJB6-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness DFNA 9 Nonsyndromic Hearing Loss and Deafness (COCH) [DFNA 9 (COCH)]

GJB2 GJB6 COCH

Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive DFNB 1 Nonsyndromic Hearing Loss and Deafness GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness DFNB 4 Nonsyndromic Hearing Loss and Deafness [DFNB 4]

GJB2 GJB6 SLC26A4

Nonsyndromic Hearing Loss and Deafness, Mitochondrial MTRNR1-Related Hearing Loss and Deafness MTTS1-Related Hearing Loss and Deafness

MTRNR1 MTTS1

Nonsyndromic Hearing Loss and Deafness, X-Linked DFN 3 Nonsyndromic Hearing Loss and Deafness [DFN 3]

POU3F4

Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

GJB2

Macrothrombocytopathy, Nephritis, and Deafness [Epstein Syndrome]

MYH9

Macrothrombocytopathy, Nephritis, Deafness, and Leukocyte Inclusions [Fechtner Syndrome]

MYH9

Renal Tubular Acidosis with Progressive Nerve Deafness

ATP6V1B1

Gitelman Syndrome

SCL12A3

Urticaria-Deafness-Amyloidosis Syndrome [Muckle-Wells Syndrome] 55

Dentatorubral-Pallidoluysian Atrophy [DRPLA]

56

Diabetes Insipidus

CIAS1 DRPLA

Nephrogenic Diabetes Insipidus Nephrogenic Diabetes Insipidus, Autosomal

AQP2

Nephrogenic Diabetes Insipidus, X-Linked

AVPR2

Neurohypophyseal Diabetes Insipidus 57

Diabetes Mellitus with Acanthosis Nigricans and Hypertension

PPARG

Diabetes Mellitus, MODY Type 1 [Maturity-Onset Diabetes of the Young Type I]

HNF4A

Diabetes Mellitus, MODY Type 2 [Maturity-Onset Diabetes of the Young Type II]

GCK

Diabetes Mellitus, MODY Type 3 [Maturity-Onset Diabetes of the Young Type III]

TCF1

Diabetes Mellitus, MODY Type 4 [Maturity-Onset Diabetes of the Young Type IV]

IPF1

Diabetes Mellitus, MODY Type 5 [Maturity-Onset Diabetes of the Young Type V]

TCF2

Diabetes Mellitus, MODY Type 6 [Maturity-Onset Diabetes of the Young Type VI]

NEUROD1

Diamond-Blackfan Anemia

59

DiGeorge Syndrome 22q11.2 Deletion Syndrome 10p13-p14 Deletion

60

2,4-Dienoyl-CoA Reductase Deficiency

61

Dilated Cardiomyopathy

DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA

歯状核赤核淡蒼球᷽ᶶ体萎縮症

小児科

第二内科

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT

腎性尿崩症Ჾ常染色体優性᳖2型᳗

小児科

第二内科

DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED

小児科

第二内科

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE

腎性尿崩症ᲾX連鎖性᳖1型᳗ 中枢性尿崩症᳖神経下垂体型᳗Ჾ家族性中枢性尿崩症

AVP

Diabetes Mellitus

58

小児科

RPS19

第二内科

黒色表皮症合併ᶶḅ᷋᷼ḅ抵抗性糖尿病᳀妖精症 IABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS᳀leprechaunism

小児科

Diamond-Blackfan syndrome

᷒ᶶᶴᷴḅᷛᳩᷨ᷻ᷕ᷁ᷧᶳḅ症候群

小児科

DiGeorge syndrome

ᷙᶵ᷊᷹᷊᳐症候群

小児科

2,4-Dienoyl-CoA reductase

第三内科

Dilated Cardiomyopathy

2,3-᷊ᶺᷠᶶ᷽-CoA ᷎᷾᷒᷁᷑᳐欠損症 家族性拡張型心筋症

小児科

Down syndrome

᷒ᶸḅ症候群

DGCR (CRITICAL REGION) DGS2,VS2 (CRITICAL REGION) DECR

Dilated Cardiomyopathy DMD-Related Dilated Cardiomyopathy

DMD

LMNA-Related Dilated Cardiomyopathy

LMNA

TAZ-Related Dilated Cardiomyopathy Dilated Cardiomyopathy with Quadriceps Myopathy 62

Down Syndrome Critical Region

TAZ LMNA DSCR1

4 / 5 ᷊ᷬ᳐

臨床遺伝子診断項目᳃Gene Test A-E

63

Duchenne/Becker Muscular Dystrophy

6/1/2007

DMD

神経内科 小児科

Duchenne / Becker muscular dystrophy

᷷ᷙ᷉ᶹḅᷞ/ᷫᷕᶽ᳐型筋᷊᷿᷋ᷚᷧᶵ᳐

小児科

DYSTONIA, PROGRESSIVE

遺伝性進行性᷊᳖᷋ᷚᷝ᳐瀬川病᳗

神経内科

familial dystonia syndrome

家族性᷊᷋ᷚᷝᶴ症候群

第一外科 小児科

Ehlers-Danlos syndrome

ᶺ᷻᷋-᷒ḅ᷿᷋症候群

小児科

Emery-Dreifess type muscular dystrophy

ᶺᷳ᳐᷼ᳩᷛ᷾ᶶᷧᶹ᷋型筋᷊᷿᷋ᷚᷧᶵ᳐症

神経内科

Emery-Dreifuss muscular dystrophy

ᶺᷳ᳐᷼型筋᷊᷿᷋ᷚᷧᶵ᳐

皮膚科

epidermolysis bullosa

表皮水疱症

神経内科

Epilepsy

ᶅᶲᵪᶲ

Generalized Epilepsy with Febrile Seizures Plus

熱性痙攣ᷩ᷻᷋

神経内科

Episodic Ataxia

周期性失調症

小児科

Familial episodic ataxia

発作性運動失調症

Becker Muscular Dystrophy Duchenne Muscular Dystrophy 64

Dystonia Early-Onset Primary Dystonia (DYT1) Dystonia 4

DYT1 DTY4 (LOCUS)

Dystonia 6

DTY6

Dystonia 7

DTY7 (LOCUS)

Dystonia11

SGCE

Dopa-Responsive Dystonia [Dystonia 5][Segawa Disease]

65

GTP Cyclohydrolase 1-Deficient DRD

GCH1

Tyrosine Hydroxylase-Deficient DRD

TH

Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Arthrochalasia Type

COL1A1,COL1A2

Ehlers-Danlos Syndrome, Classic Type

COL5A1,COL5A2

Ehlers-Danlos Syndrome Type I Ehlers-Danlos Syndrome Type II Ehlers-Danlos Syndrome, Kyphoscoliotic Form Ehlers-Danlos Syndrome, Vascular Type 66

PLOD COL3A1

Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy, Autosomal Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy, X-Linked

67

LMNA EMD

Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica, Bart Type

COL7A1

Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type

COL7A1

Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type

COL7A1

Epidermolysis Bullosa Dystrophica, Pasini Type

COL7A1

Epidermolysis Bullosa Junctional, Disentis Type

COL7A1,LAMB3

Epidermolysis Bullosa Junctional, Herlitz-Pearson Type Epidermolysis Bullosa Letalis with Pyloric Atresia Epidermolysis Bullosa Simplex

LAMB3,LAMA3,LAMC2 ITGA6,ITGB4 KR14,KRT5

Epidermolysis Bullosa Simplex with Mottled Pigmentation Epidermolysis Bullosa Simplex, Dowling-Meara Type Epidermolysis Bullosa Simplex, Koebner Type Epidermolysis Bullosa Simplex, Weber-Cockayne Type Epidermolysis Bullosa with Muscular Dystrophy

PLEC1

Epidermolysis Bullosa, Pretibial

COL7A1

251 Epilepsy Generalized Epilepsy with Febrile Seizures Plus 68

SCN1A, SCN1B, GABRG2, SCN2A

Episodic Ataxia Episodic Ataxia Type 1

KCNA1

Episodic Ataxia Type 2

CACNA1A,CACNB4

5 / 5 ᷊ᷬ᳐