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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Dysostoses (D004413)
Parent Node: Ectodermal Dysplasia (D004476)
Parent Node: Genetic Diseases, X-Linked (D040181)
..Starting node ..Focal Dermal Hypoplasia (D005489)
Child Nodes:
........Facial ectodermal dysplasia (C536385)
Sister Nodes:
..Aarskog Syndrome (C535331) 1
..Abruzzo Erickson syndrome (C535559)
..Achromatopsia incomplete, X-linked (C538165)
..Adrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
..Agammaglobulinemia, X-linked, type 2 (C538057)
..Aicardi Syndrome (D058540) 1
..Aland Island Eye Disease (C562664)
..Alpha-Thalassemia Myelodysplasia Syndrome (C563023)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Alzheimer Disease 16 (C567463)
..Androgen-Insensitivity Syndrome (D013734) 2
..Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (C567533)
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Anemia, X-Linked, without Thrombocytopenia (C564429)
..Anencephaly and spina bifida X-linked (C536359)
..Aneurysm, Intracranial Berry, 5 (C563670)
..Angioma serpiginosum, X-linked (C536366)
..Arthrogryposis multiplex congenita, distal, X-linked (C535380)
..Arthrogryposis, X-Linked, Type V (C564574)
..Arts syndrome (C535388)
..Atypical Mycobacteriosis, Familial, X-Linked 1 (C567070)
..Atypical Mycobacteriosis, Familial, X-Linked 2 (C567068)
..Barth Syndrome (D056889) 2
..Bornholm Eye Disease (C564092)
..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..Branchial arch syndrome X-linked (C537102)
..Brunner Syndrome (C563156)
..Bruton type agammaglobulinemia (C537409)
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..Cantu syndrome (C535572)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardiomyopathy, Dilated, 3A (C564721)
..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
..Chondrodysplasia punctata 2, X-linked dominant (C538416)
..Chondrodysplasia punctata, brachytelephalangic (C535941)
..Choroideremia (D015794) 2
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Cleft Palate with Ankyloglossia (C564442)
..Cleft palate X-linked (C536426)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Congenital alopecia X-linked (C535981)
..Congenital Heart Defects, X-Linked (C567444)
..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..Congenital idiopathic intestinal pseudoobstruction (C535532)
..Corpus Callosum, Partial Agenesis of, X-Linked (C564115)
..Craniofacioskeletal Syndrome (C567471)
..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
..Deafness, X-Linked 1 (C564433)
..Deafness, X-Linked 3 (C564727)
..Deafness, X-Linked 4 (C564723)
..Deafness, X-Linked 5 (C564472)
..Dent Disease (D057973) 1
..Dent disease 1 (C538212)
..Dent Disease 2 (C564487)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dyserythropoietic Anemia with Thrombocytopenia (C564525)
..Dyskeratosis Congenita (D019871) 3
..Dystonia 3, Torsion, X-Linked (C564048)
..Ectodermal Dysplasia 1, Anhidrotic (D053358) 1
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..Ehlers-Danlos syndrome type 5 (C536197)
..Epidermodysplasia Verruciformis, X-Linked (C564430)
..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Episodic Muscle Weakness, X-Linked (C564565)
..Exudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
..Fabry Disease (D000795) 2
..Fetal akinesia syndrome, X-linked (C537921)
..Fg Syndrome 5 (C564480)
..Focal Dermal Hypoplasia (D005489) 1
..Glycogen Storage Disease Type IIb (D052120)
..Glycogen Storage Disease Type VIII (D006015)
..Glycogen Storage Disease, Type IXA2 (C567579)
..Glycogen Storage Disease, Type IXD (C564485)
..Granulomatous Disease, Chronic (D006105) 7
..Hemophilia B (D002836)
..Heterotaxy, visceral, X-linked (C538116)
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Heterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
..Hodgkin disease, X-linked pseudoautosomal (C538326)
..Hydrocephalus With Cerebellar Agenesis (C564407)
..Hydrocephalus, X-linked (C536078)
..Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
..Hyper-IgM Immunodeficiency Syndrome, Type 1 (D053307) 1
..Hyperekplexia and Epilepsy (C564474)
..Hypertrichosis congenital generalized X-linked (C538388)
..Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149)
..Hypogammaglobulinemia, X-Linked (C562478)
..Hypoparathyroidism, X-Linked (C562782)
..Hypospadias 1, X-Linked (C567482)
..Hypospadias 2, X-Linked (C567462)
..Ichthyosis, X-Linked (D016114) 2
..Ichthyosis, X-Linked, Complicated (C567443)
..Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (C580192)
..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (C562780)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Joubert Syndrome 10 (C567582)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Leigh Syndrome, X-Linked (C564114)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Liver Glycogenosis, X-Linked, Type II (C564421)
..Lymphoproliferative Syndrome, X-Linked, 2 (C564469)
..Macrothrombocytopenia, X-Linked (C564526)
..Macular Dystrophy, X-Linked (C564110)
..Major Affective Disorder 2 (C564108)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..Megalocornea (C562829)
..Membranoproliferative Glomerulonephritis, X-Linked (C564423)
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mental Retardation, X-Linked (D038901) 134
..Mental Retardation, X-Linked, Syndromic 12 (C564106)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
..Mental Retardation, X-Linked, With Panhypopituitarism (C567485)
..Mental Retardation, X-Linked, Znf711-Related (C567583)
..Microcephaly microcornea syndrome Seemanova type (C537539)
..Microphthalmia, Isolated, with Coloboma 1 (C564531)
..Microphthalmia, syndromic 7 (C537466)
..Midline Defects, X-Linked (C564054)
..Mitral valve prolapse, familial, X-linked (C537478)
..Modifier, X-Linked, for Neurofunctional Defects (C564098)
..Multiple Pterygium Syndrome, X-Linked (C564072)
..Muscular Dystrophy, Duchenne (D020388) 1
..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myopia 1 (C564091)
..Myopia 13 (C564473)
..Nance-Horan syndrome (C538336)
..Nasodigitoacoustic syndrome (C538337)
..NEMO mutation with immunodeficiency (C538399)
..Nephrogenic Syndrome of Inappropriate Antidiuresis (C564491)
..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..Neural tube defects X-linked (C536410)
..Neuropathy, Hereditary Sensory, X-Linked (C564090)
..Neutropenia, Severe Congenital, X-Linked (C564539)
..Night blindness, congenital stationary (C536122) 4
..Nystagmus 5, Infantile Periodic Alternating (C564478)
..Oculocerebrorenal Syndrome (D009800) 1
..Ophthalmoplegia, External, and Myopia (C564087)
..Opitz GBBB Syndrome, X-Linked (C567932)
..Optic atrophy, X-linked (C537125)
..Ornithine Carbamoyltransferase Deficiency Disease (D020163) 1
..Ovarian Dysgenesis 2 (C564499)
..Panhypopituitarism X-linked (C538613)
..Parathyroid Glands, Agenesis Of (C563238)
..Parkinson Disease 12 (C564486)
..Parkinsonism, early onset with mental retardation (C537179)
..Pelizaeus-Merzbacher Disease (D020371) 1
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Premature Ovarian Failure 2a (C564498)
..Progressive hearing loss stapes fixation (C536424)
..Properdin Deficiency, Type II (C564075)
..Properdin Deficiency, Type III (C564076)
..Properdin deficiency, X-linked (C537241)
..PROSTATE CANCER, HEREDITARY, X-LINKED 1 (OMIM:300147)
..Prostate Cancer, Hereditary, X-Linked 2 (C567477)
..Protoporphyria, Erythropoietic, X-Linked Dominant (C567464)
..Proud Syndrome (C563110)
..Ptosis, Hereditary Congenital 2 (C564553)
..Radial Ray Deficiency, X-Linked (C564523)
..Radiation Sensitivity of Natural Killer Activity (C564066)
..Radius absent anogenital anomalies (C535281)
..Reticuloendotheliosis, X-linked (C538362)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 6 (C564065)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Russell-Silver Syndrome, X-Linked (C562446)
..Short Stature, Idiopathic, X-Linked (C564479)
..Simpson-Golabi-Behmel syndrome (C537340)
..Simpson-Golabi-Behmel Syndrome, Type 2 (C564567)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Spastic paraplegia 16, X-linked (C536643)
..Spastic paraplegia 2, X-linked (C536857)
..Spastic Paraplegia 34, X-Linked (C567465)
..Spina Bifida, X-Linked (C564459)
..Spinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
..Spinocerebellar ataxia, X-linked, 3 (C537315)
..Split-Hand Foot Malformation 2 (C564056) 1
..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447)
..Spondylometaphyseal Dysplasia, X-Linked (C563124)
..Surfactant Metabolism Dysfunction, Pulmonary, 4 (C567461)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Testicular Germ Cell Tumor 1 (C564559)
..Thrombocytopenia 1 (C564052)
..Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..Thrombocytopenia, X-Linked, Intermittent (C564053)
..Thrombocytosis, Familial X-Linked (C564532)
..Thrombophilia, X-Linked, Due To Factor Ix Defect (C567581)
..Thyroxine-Binding Globulin Deficiency (C564049)
..Tooth Agenesis, Selective, X-Linked, 1 (C567060)
..Torticollis keloids cryptorchidism renal dysplasia (C536970)
..VACTERL Association With Hydrocephalus (C564751)
..VACTERL association with hydrocephaly, X-linked (C536520)
..Vasquez Hurst Sotos syndrome (C536533)
..Vesicoureteral Reflux, X-Linked (C564042)
..Von Willebrand Disease, X-Linked Form (C564041)
..Wells Jankovic syndrome (C536692)
..Wieacker syndrome (C536703)
..Wiskott-Aldrich Syndrome (D014923) 1
..X Inactivation, Familial Skewed, 1 (C564716)
..X Inactivation, Familial Skewed, 2 (C564572)
..X-linked adrenal hypoplasia congenita (C536757)
..X-Linked Chondrodysplasia Punctata 1 (C580533)
..X-Linked Combined Immunodeficiency Diseases (D053632) 1
..X-Linked Infantile Nystagmus (C580539)
..X-linked sideroblastic anemia (C536761)
..X-linked tetra-amelia (C536497)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4345

Name:

Focal Dermal Hypoplasia

Definition:

A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.

Alternative IDs:

OMIM:305600

ParentIDs:

MESH:D004413|MESH:D004476|MESH:D040181

TreeNumbers:

C05.116.099.370.380 |C16.131.077.350.424 |C16.131.831.350.424 |C16.320.322.186 |C16.320.850.250.424 |C17.800.804.350.424 |C17.800.827.250.424

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease

Reference:

MedGen: D005489
MeSH: D005489
OMIM: 305600;

Genes: PORCN;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0010719	Abnormality of hair texture
3	HP:0001600	Abnormality of the larynx
4	HP:0000377	Abnormality of the pinna
5	HP:0001817	Absent fingernail
6	HP:0001802	Absent toenail
7	HP:0001274	Agenesis of corpus callosum
8	HP:0000526	Aniridia
9	HP:0000528	Anophthalmia
10	HP:0001545	Anteriorly placed anus
11	HP:0002308	Arnold-Chiari malformation
12	HP:0030037	Bifid ureter
13	HP:0001156	Brachydactyly
14	HP:0002299	Brittle hair
15	HP:0000455	Broad nasal tip
16	HP:0000567	Chorioretinal coloboma
17	HP:0003191	Cleft ala nasi
18	HP:0000175	Cleft palate
19	HP:0000204	Cleft upper lip
20	HP:0000060	Clitoral hypoplasia
21	HP:0000776	Congenital diaphragmatic hernia
22	HP:0001374	Congenital hip dislocation
23	HP:0000028	Cryptorchidism
24	HP:0000684	Delayed eruption of teeth
25	HP:0000689	Dental malocclusion
26	HP:0004334	Dermal atrophy
27	HP:0001540	Diastasis recti
28	HP:0001083	Ectopia lentis
29	HP:0006297	Enamel hypoplasia
30	HP:0000324	Facial asymmetry
31	HP:0001849	Foot oligodactyly
32	HP:0001829	Foot polydactyly
33	HP:0001180	Hand oligodactyly
34	HP:0002036	Hiatus hernia
35	HP:0000085	Horseshoe kidney
36	HP:0000238	Hydrocephalus
37	HP:0000126	Hydronephrosis
38	HP:0000668	Hypodontia
39	HP:0002557	Hypoplastic nipples
40	HP:0000023	Inguinal hernia
41	HP:0001249	Intellectual disability
42	HP:0002566	Intestinal malrotation
43	HP:0000612	Iris coloboma
44	HP:0001388	Joint laxity
45	HP:0000066	Labial hypoplasia
46	HP:0007546	Linear hyperpigmentation
47	HP:0000369	Low-set ears
48	HP:0000252	Microcephaly
49	HP:0000568	Microphthalmia
50	HP:0006638	Midclavicular aplasia
51	HP:0006608	Midclavicular hypoplasia
52	HP:0000410	Mixed hearing impairment
53	HP:0002475	Myelomeningocele
54	HP:0002164	Nail dysplasia
55	HP:0008404	Nail dystrophy
56	HP:0000446	Narrow nasal bridge
57	HP:0000639	Nystagmus
58	HP:0000677	Oligodontia
59	HP:0001539	Omphalocele
60	HP:0000648	Optic atrophy
61	HP:0010740	Osteopathia striata
62	HP:0002232	Patchy alopecia
63	HP:0000307	Pointed chin
64	HP:0001162	Postaxial hand polydactyly
65	HP:0007663	Reduced visual acuity
66	HP:0007588	Reticular hyperpigmentation
67	HP:0002650	Scoliosis
68	HP:0009381	Short finger
69	HP:0010049	Short metacarpal
70	HP:0010743	Short metatarsal
71	HP:0009803	Short phalanx of finger
72	HP:0000773	Short ribs
73	HP:0004322	Short stature
74	HP:0008070	Sparse hair
75	HP:0003298	Spina bifida occulta
76	HP:0001839	Split foot
77	HP:0001171	Split hand
78	HP:0000402	Stenosis of the external auditory canal
79	HP:0000486	Strabismus
80	HP:0002558	Supernumerary nipple
81	HP:0001009	Telangiectasia
82	HP:0001770	Toe syndactyly
83	HP:0001537	Umbilical hernia
84	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_203473.2(PORCN):c.178G>A (p.Gly60Arg)	64840	PORCN	Pathogenic	267606973	RCV000011447;	N	MedGen:C0016395,OMIM:305600,ORPHA:2092	X	48369724	48369724	NM_203473.2:c.178G>A	NP_982299.1:p.Gly60Arg	NC_000023.10:g.48369724G>A	OMIM Allelic Variant:300651.0002	C0016395 305600 Focal dermal hypoplasia
NM_203473.2(PORCN):c.222G>A (p.Trp74Ter)	64840	PORCN	Pathogenic	137852219	RCV000011449;	N	MedGen:C0016395,OMIM:305600,ORPHA:2092	X	48369768	48369768	NM_203473.2:c.222G>A	NP_982299.1:p.Trp74Ter	NC_000023.10:g.48369768G>A	OMIM Allelic Variant:300651.0004	C0016395 305600 Focal dermal hypoplasia
NM_203473.2(PORCN):c.370C>T (p.Arg124Ter)	64840	PORCN	Pathogenic	137852218	RCV000011448;	N	MedGen:C0016395,OMIM:305600,ORPHA:2092	X	48370320	48370320	NM_203473.2:c.370C>T	NP_982299.1:p.Arg124Ter	NC_000023.10:g.48370320C>T	OMIM Allelic Variant:300651.0003	C0016395 305600 Focal dermal hypoplasia
NM_203475.2(PORCN):c.1059_1071dupCCTGGCTTTTATC (p.Thr358Profs)	64840	PORCN	Pathogenic	587776737	RCV000011446;	N	MedGen:C0016395,OMIM:305600,ORPHA:2092	X	48374313	48374325	NM_203475.2:c.1059_1071dupCCTGGCTTTTATC	NP_982301.1:p.Thr358Profs		OMIM Allelic Variant:300651.0001	C0016395 305600 Focal dermal hypoplasia
NM_203473.2(PORCN):c.1094G>A (p.Arg365Gln)	64840	PORCN	Pathogenic	387906723	RCV000022872;	N	MedGen:C0016395,OMIM:305600,ORPHA:2092	X	48374470	48374470	NM_203473.2:c.1094G>A	NP_982299.1:p.Arg365Gln	NC_000023.10:g.48374470G>A	OMIM Allelic Variant:300651.0005	C0016395 305600 Focal dermal hypoplasia