MCID: FCL009
MIFTS: 56

Focal Dermal Hypoplasia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Focal Dermal Hypoplasia

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Aliases & Descriptions for Focal Dermal Hypoplasia:

Name: Focal Dermal Hypoplasia 49 10 11 21 45 22 23 12 51 67 36 24 65
Goltz Syndrome 10 21 45 22 23 51 67
Goltz-Gorlin Syndrome 21 45 22 23 51 67
Fodh 45 22 67
 
Fdh 45 22 67
Goltz Gorlin Syndrome 45 67
Dhof 45 67
Basal Cell Nevus Syndrome 65

Characteristics:

Orphanet epidemiological data:

51
focal dermal hypoplasia:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

61
focal dermal hypoplasia:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 305600
Disease Ontology10 DOID:2120
MeSH36 D005489
NCIt42 C84715
Orphanet51 2092
SNOMED-CT59 205573006, 2298005
UMLS via Orphanet66 C0016395
ICD10 via Orphanet28 Q82.8
MESH via Orphanet37 D005489
MedGen34 C0016395
UMLS65 C0016395

Summaries for Focal Dermal Hypoplasia

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NIH Rare Diseases:45 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. the skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. they also may abnormalities in the nails, hands, and feet. some of the eye findings present may include small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. people with focal dermal hypoplasia may also have distinctive facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). most individuals with this condition are female. males usually have milder signs and symptoms than females. although intelligence is typically unaffected, some individuals have intellectual disability. this condition is caused by mutations in the porcn gene and is inherited in an x-linked dominant manner. most cases of focal dermal hypoplasia in females result from new mutations in the porcn gene and occur in people with no history of the disorder in their family. when focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. treatment is based on the signs and symptoms present in the person; however, care usually involves a team of specialists, including dermatologists, otolaryngologist, physical/occupational therapists, and hand surgeons. last updated: 2/5/2016

MalaCards based summary: Focal Dermal Hypoplasia, also known as goltz syndrome, is related to basal cell nevus syndrome and focal facial dermal dysplasia, and has symptoms including verrucae, rough bone trabeculation and telangiectasia of the skin. An important gene associated with Focal Dermal Hypoplasia is PORCN (Porcupine Homolog (Drosophila)), and among its related pathways are Fatty acid metabolism and cholesterol biosynthesis II (via 24,25-dihydrolanosterol). Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are limbs/digits/tail and muscle.

UniProtKB/Swiss-Prot:67 Focal dermal hypoplasia: A rare congenital ectomesodermal disorder characterized by a combination of skin defects, skeletal abnormalities, and ocular anomalies. Affected individuals have patchy dermal hypoplasia, often in a distribution pattern following the Blaschko lines, and areas of subcutaneous fat herniation or deposition of fat into the dermis. In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen. Patients frequently have ocular anomalies, including microphthalmia/ anophthalmia, coloboma, pigmentary and vascularization defects of the retina. Dental abnormalities are often present.

Genetics Home Reference:23 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.

Wikipedia:68 Focal dermal hypoplasia (also known as \"Goltz syndrome\") is a form of ectodermal dysplasia. It is a... more...

Description from OMIM:49 305600

GeneReviews summary for NBK1543

Related Diseases for Focal Dermal Hypoplasia

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Graphical network of the top 20 diseases related to Focal Dermal Hypoplasia:



Diseases related to focal dermal hypoplasia

Symptoms for Focal Dermal Hypoplasia

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Symptoms by clinical synopsis from OMIM:

305600

Clinical features from OMIM:

305600

Symptoms:

 51 (show all 70)
  • tooth shape anomaly
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • anomalies of ear and hearing
  • low set ears/posteriorly rotated ears
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • herniae
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • anomalies of hands
  • syndactyly of fingers/interdigital palm
  • upper limb polydactyly/hexadactyly
  • oligodactyly/ectrodactyly of fingers
  • camptodactyly of fingers
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • oligodactyly/ectrodactyly of toes
  • syndactyly of toes
  • skin hypoplasia/aplasia/atrophy
  • macules
  • thin skin
  • anetodermia/dermal atrophy
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • telangiectasiae of the skin
  • warts/papillomas
  • nails anomalies
  • rough trabeculation of bone
  • epiphyseal anomaly
  • x-linked dominant inheritance
  • early death/lethality
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • dental malocclusion
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • aniridia/iris hypoplasia
  • coloboma of iris
  • corneal clouding/opacity/vascularisation
  • lens dislocation/luxation/subluxation/ectopia lentis
  • choroidal anomalies/atrophy/choroideremia
  • strabismus/squint
  • anomalies of teeth and dentition
  • clavicle absent/abnormal
  • anomalies of the ribs
  • scoliosis
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • skin tumors/lumps/epidermal cysts
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • alopecia
  • ectopic/horseshoe/fused kidneys
  • multicystic kidney/renal dysplasia
  • spina bifida
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • pointed chin
  • narrow nasal bridge
  • omphalocele/exomphalos
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • duodenal atresia/stenosis/megaduodenum
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • acute abdominal pain/colic
  • acute hepatic failure
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • diaphragmatic hernia/defect/agenesis
  • mediastinal anomalies
  • cardiac septal defect
  • ventricular septal defect/interventricular communication
  • patent ductus arteriosus
  • pulmonary veins anomalies
  • agenesis/hypoplasia/aplasia of kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • abnormal fat distribution/lipodystrophy

HPO human phenotypes related to Focal Dermal Hypoplasia:

(show all 134)
id Description Frequency HPO Source Accession
1 verrucae hallmark (90%) HP:0200043
2 rough bone trabeculation hallmark (90%) HP:0100670
3 telangiectasia of the skin hallmark (90%) HP:0100585
4 lower limb asymmetry hallmark (90%) HP:0100559
5 camptodactyly of finger hallmark (90%) HP:0100490
6 reduced number of teeth hallmark (90%) HP:0009804
7 abnormality of dental morphology hallmark (90%) HP:0006482
8 finger syndactyly hallmark (90%) HP:0006101
9 abnormality of epiphysis morphology hallmark (90%) HP:0005930
10 dermal atrophy hallmark (90%) HP:0004334
11 split foot hallmark (90%) HP:0001839
12 toe syndactyly hallmark (90%) HP:0001770
13 abnormality of the nail hallmark (90%) HP:0001597
14 split hand hallmark (90%) HP:0001171
15 hand polydactyly hallmark (90%) HP:0001161
16 hypermelanotic macule hallmark (90%) HP:0001034
17 thin skin hallmark (90%) HP:0000963
18 abnormality of dental enamel hallmark (90%) HP:0000682
19 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
20 cognitive impairment typical (50%) HP:0100543
21 abnormal localization of kidney typical (50%) HP:0100542
22 aplasia/hypoplasia of the iris typical (50%) HP:0008053
23 opacification of the corneal stroma typical (50%) HP:0007759
24 scoliosis typical (50%) HP:0002650
25 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
26 spina bifida typical (50%) HP:0002414
27 alopecia typical (50%) HP:0001596
28 choroideremia typical (50%) HP:0001139
29 ectopia lentis typical (50%) HP:0001083
30 abnormality of the clavicle typical (50%) HP:0000889
31 abnormality of the ribs typical (50%) HP:0000772
32 dental malocclusion typical (50%) HP:0000689
33 iris coloboma typical (50%) HP:0000612
34 strabismus typical (50%) HP:0000486
35 facial asymmetry typical (50%) HP:0000324
36 multicystic kidney dysplasia typical (50%) HP:0000003
37 duodenal stenosis occasional (7.5%) HP:0100867
38 abnormality of the mediastinum occasional (7.5%) HP:0045026
39 neoplasm of the skeletal system occasional (7.5%) HP:0010622
40 abnormality of adipose tissue occasional (7.5%) HP:0009124
41 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
42 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
43 acute hepatic failure occasional (7.5%) HP:0006554
44 abnormality of the pulmonary vasculature occasional (7.5%) HP:0004930
45 abdominal pain occasional (7.5%) HP:0002027
46 patent ductus arteriosus occasional (7.5%) HP:0001643
47 ventricular septal defect occasional (7.5%) HP:0001629
48 omphalocele occasional (7.5%) HP:0001539
49 umbilical hernia occasional (7.5%) HP:0001537
50 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
51 narrow nasal bridge occasional (7.5%) HP:0000446
52 pointed chin occasional (7.5%) HP:0000307
53 bifid ureter HP:0030037
54 short metatarsal HP:0010743
55 osteopathia striata HP:0010740
56 short metacarpal HP:0010049
57 short phalanx of finger HP:0009803
58 short finger HP:0009381
59 sparse hair HP:0008070
60 reduced visual acuity HP:0007663
61 reticular hyperpigmentation HP:0007588
62 linear hyperpigmentation HP:0007546
63 midclavicular aplasia HP:0006638
64 midclavicular hypoplasia HP:0006608
65 hypoplasia of dental enamel HP:0006297
66 dermal atrophy HP:0004334
67 short stature HP:0004322
68 spina bifida occulta HP:0003298
69 cleft ala nasi HP:0003191
70 scoliosis HP:0002650
71 intestinal malrotation HP:0002566
72 supernumerary nipple HP:0002558
73 hypoplastic nipples HP:0002557
74 myelomeningocele HP:0002475
75 arnold-chiari malformation HP:0002308
76 brittle hair HP:0002299
77 patchy alopecia HP:0002232
78 nail dysplasia HP:0002164
79 hiatus hernia HP:0002036
80 oligodactyly (feet) HP:0001849
81 split foot HP:0001839
82 foot polydactyly HP:0001829
83 absent fingernail HP:0001817
84 absent toenail HP:0001802
85 toe syndactyly HP:0001770
86 abnormality of the larynx HP:0001600
87 anteriorly placed anus HP:0001545
88 diastasis recti HP:0001540
89 omphalocele HP:0001539
90 umbilical hernia HP:0001537
91 joint laxity HP:0001388
92 congenital hip dislocation HP:0001374
93 agenesis of corpus callosum HP:0001274
94 intellectual disability HP:0001249
95 oligodactyly (hands) HP:0001180
96 split hand HP:0001171
97 postaxial hand polydactyly HP:0001162
98 brachydactyly syndrome HP:0001156
99 ectopia lentis HP:0001083
100 telangiectasia HP:0001009
101 congenital diaphragmatic hernia HP:0000776
102 short ribs HP:0000773
103 dental malocclusion HP:0000689
104 delayed eruption of teeth HP:0000684
105 oligodontia HP:0000677
106 hypodontia HP:0000668
107 optic atrophy HP:0000648
108 nystagmus HP:0000639
109 iris coloboma HP:0000612
110 microphthalmia HP:0000568
111 chorioretinal coloboma HP:0000567
112 anophthalmia HP:0000528
113 aniridia HP:0000526
114 visual impairment HP:0000505
115 strabismus HP:0000486
116 broad nasal tip HP:0000455
117 narrow nasal bridge HP:0000446
118 mixed hearing impairment HP:0000410
119 stenosis of the external auditory canal HP:0000402
120 abnormality of the pinna HP:0000377
121 low-set ears HP:0000369
122 facial asymmetry HP:0000324
123 pointed chin HP:0000307
124 microcephaly HP:0000252
125 hydrocephalus HP:0000238
126 cleft upper lip HP:0000204
127 cleft palate HP:0000175
128 hydronephrosis HP:0000126
129 horseshoe kidney HP:0000085
130 ureteral duplication HP:0000073
131 labial hypoplasia HP:0000066
132 clitoral hypoplasia HP:0000060
133 cryptorchidism HP:0000028
134 inguinal hernia HP:0000023

Drugs & Therapeutics for Focal Dermal Hypoplasia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)CompletedNCT01350115Phase 2
2A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
3Study of Selected X-linked Disorders: Goltz SyndromeRecruitingNCT00691223
4Growth Arrest in Focal Dermal HypoplasiaActive, not recruitingNCT02463656

Search NIH Clinical Center for Focal Dermal Hypoplasia


Cochrane evidence based reviews: focal dermal hypoplasia

Genetic Tests for Focal Dermal Hypoplasia

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Genetic tests related to Focal Dermal Hypoplasia:

id Genetic test Affiliating Genes
1 Focal Dermal Hypoplasia22 PORCN

Anatomical Context for Focal Dermal Hypoplasia

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MalaCards organs/tissues related to Focal Dermal Hypoplasia:

33
Skin, Eye, Kidney, Retina, Bone, Lung, Breast

Animal Models for Focal Dermal Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Focal Dermal Hypoplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4OFD1, PORCN, TP63, WNT3A
2MP:00053698.2HCCS, HMBS, TP63, WNT3A
3MP:00053808.0HCCS, OFD1, PORCN, TP63, WNT3A
4MP:00053817.9OFD1, PORCN, SOAT2, TP63, WNT3A
5MP:00053827.9OFD1, PORCN, TP63, WNT3A
6MP:00053677.9HMBS, OFD1, PORCN, TP63, WNT3A
7MP:00053857.1HCCS, OFD1, SOAT1, SOAT2, TP63, WNT3A

Publications for Focal Dermal Hypoplasia

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Articles related to Focal Dermal Hypoplasia:

(show top 50)    (show all 177)
idTitleAuthorsYear
1
Dry Eye Syndrome in Patients with Diabetes Mellitus: Prevalence, Etiology, and Clinical Characteristics. (27213053)
2016
2
Oxidative stress-mediated (sex-specific) loss of protection against type-2 diabetes by macrophage migration inhibitory factor (MIF)-173G/C polymorphism. (25108206)
2015
3
Emerging links between E2F control and mitochondrial function. (25634216)
2015
4
Combinatorial effects of malaria season, iron deficiency, and inflammation determine plasma hepcidin concentration in African children. (24596418)
2014
5
Correlation between DQB1 genetic polymorphism and genetic susceptibility in patients diagnosed with irritable bowel syndrome with diarrhea. (25501240)
2014
6
A non-stationary relationship between global climate phenomena and human plague incidence in Madagascar. (25299064)
2014
7
Hydronephrosis in patients with cervical cancer: an assessment of morbidity and survival. (25339620)
2014
8
Approaches to the rehabilitation of dysphagia in acute poststroke patients. (24166190)
2013
9
Immunohistochemical location of the p75 neurotrophin receptor (p75NTR) in oral leukoplakia and oral squamous cell carcinoma. (22170235)
2013
10
Bulimia nervosa-nonpurging subtype: Closer to the bulimia nervosa-purging subtype or to binge eating disorder? (24282157)
2013
11
Phospholipase C-I^1 and schizophrenia-related behaviors. (24035496)
2013
12
IgE- and IgG mediated severe anaphylactic platelet transfusion reaction in a known case of cerebral malaria. (23559774)
2013
13
Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci. (22521342)
2012
14
Proteomic detection of a large amount of SCGFI+ in the stroma of GISTs after imatinib therapy. (21943129)
2011
15
Prevalence of bacterial vaginosis and its risk factors in HIV/AIDS patients with abnormal vaginal discharge. (21771443)
2011
16
Leiomyoma of the urinary bladder: a series of nine cases and review of the literature. (20947147)
2010
17
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. (20358597)
2010
18
Preclinical studies of chemotherapy using histone deacetylase inhibitors in endometrial cancer. (20169171)
2010
19
Hormone and pharmaceutical regulation of ASP production in 3T3-L1 adipocytes. (20069551)
2010
20
Thyroid eye disease. (19270020)
2009
21
Plasma levels and skin-eosinophil-expression of vascular endothelial growth factor in patients with chronic urticaria. (19485983)
2009
22
Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. (19776381)
2009
23
Sacral chordoma: can local recurrence after sacrectomy be predicted? (18584264)
2008
24
Role of serotonergic gene polymorphisms on response to transcranial magnetic stimulation in depression. (17466494)
2007
25
Neuroendocrine tumor of the pancreas resulting in precocious puberty. (17618907)
2007
26
Part II. Eosinophilia-Myalgia Syndrome: further correlations between compromised histamine degradation, eosinophilias and myopathies. (17806156)
2007
27
Association of HLA class II genes with idiopathic pulmonary arterial hypertension in Koreans. (17406941)
2007
28
Sorting nexin 1 down-regulation promotes colon tumorigenesis. (17145813)
2006
29
KSHV-GPCR and CXCR2 transforming capacity and angiogenic responses are mediated through a JAK2-STAT3-dependent pathway. (15688008)
2005
30
Target discovery in small-molecule cell-based screens by in situ proteome reactivity profiling. (16200062)
2005
31
Growing teratoma syndrome after chemotherapy for germ cell tumour of the ovary. (16147741)
2005
32
Addition of rosiglitazone to metformin is most effective in obese, insulin-resistant patients with type 2 diabetes. (12681023)
2003
33
Acquired and genetic susceptibility to cervical cancer. (14644338)
2003
34
Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency. (12717343)
2003
35
Amplification and overexpression of the EMS 1 oncogene, a possible prognostic marker, in human hepatocellular carcinoma. (12552080)
2003
36
Interaction of a cationic acrylate polymer with caseins: biphasic effect of Eudragit E100 on the stability of casein micelles. (12848519)
2003
37
Multihormonal responses to clonidine in patients with affective and psychotic symptoms. (10938452)
2000
38
Hyperplasia of type II pneumocytes in pulmonary lymphangioleiomyomatosis. (11079017)
2000
39
Sizzled: a secreted Xwnt8 antagonist expressed in the ventral marginal zone of Xenopus embryos. (9428410)
1997
40
The Ras-JNK pathway is involved in shear-induced gene expression. (8887624)
1996
41
Pathological lesions of Alzheimer's disease and dementia with Lewy bodies brains exhibit immunoreactivity to an ATPase that is a regulatory subunit of the 26S proteasome. (8971806)
1996
42
TH2-type infiltrating T cells in nickel-induced contact dermatitis. (7671317)
1995
43
Effects of the apolipoprotein E polymorphism on uptake and transfer of cell-derived cholesterol in plasma. (8675636)
1995
44
Plasma phospholipase A2 activity in clinical acute myocardial infarction. (1555324)
1992
45
Intraplatelet serotonin, beta-thromboglobulin, and histamine concentrations and thromboxane A2 synthesis in renal disease. (1832515)
1991
46
Isoelectric focusing pattern of human amniotic fluid alpha-fetoprotein. (1721714)
1991
47
Differential expression of the neural cell adhesion molecule NCAM 140 in human pituitary tumors. (2121537)
1990
48
Interaction between deletion delta-thalassemia and beta zero-thalassemia (codon 39 nonsense mutation) in a Sardinian family. (2482492)
1989
49
Craniopharyngioma and &quot;reactive&quot; subependymoma of the third ventricle--a case report. (3568466)
1987
50
Localized primary cutaneous intravascular papillary endothelial hyperplasia. (7194355)
1981

Variations for Focal Dermal Hypoplasia

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UniProtKB/Swiss-Prot genetic disease variations for Focal Dermal Hypoplasia:

67 (show all 15)
id Symbol AA change Variation ID SNP ID
1PORCNp.Gly60ArgVAR_035089
2PORCNp.Arg365GlyVAR_035090
3PORCNp.Ser136PheVAR_058899
4PORCNp.Gly168ArgVAR_058900
5PORCNp.Val258GluVAR_058902
6PORCNp.His341LeuVAR_058903
7PORCNp.Arg365GlnVAR_058904
8PORCNp.Cys385ArgVAR_058905
9PORCNp.Trp439ArgVAR_058906
10PORCNp.His252TyrVAR_065189
11PORCNp.Ser297LeuVAR_065190
12PORCNp.Leu331ArgVAR_065191
13PORCNp.Glu361ValVAR_065192
14PORCNp.Cys385TyrVAR_065193
15PORCNp.Ala374ProVAR_066061

Clinvar genetic disease variations for Focal Dermal Hypoplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PORCNNM_203475.2(PORCN): c.1059_1071dupCCTGGCTTTTATC (p.Thr358Profs)duplicationPathogenicrs587776737GRCh37Chr X, 48374313: 48374325
2PORCNNM_203473.2(PORCN): c.178G> A (p.Gly60Arg)single nucleotide variantPathogenicrs267606973GRCh37Chr X, 48369724: 48369724
3PORCNNM_203473.2(PORCN): c.370C> T (p.Arg124Ter)single nucleotide variantPathogenicrs137852218GRCh37Chr X, 48370320: 48370320
4PORCNNM_203473.2(PORCN): c.222G> A (p.Trp74Ter)single nucleotide variantPathogenicrs137852219GRCh37Chr X, 48369768: 48369768
5PORCNNM_203473.2(PORCN): c.1094G> A (p.Arg365Gln)single nucleotide variantPathogenicrs387906723GRCh37Chr X, 48374470: 48374470

Expression for genes affiliated with Focal Dermal Hypoplasia

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Search GEO for disease gene expression data for Focal Dermal Hypoplasia.

Pathways for genes affiliated with Focal Dermal Hypoplasia

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GO Terms for genes affiliated with Focal Dermal Hypoplasia

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Biological processes related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particle assemblyGO:00343799.4SOAT1, SOAT2
2post-anal tail morphogenesisGO:00363429.1TP63, WNT3A

Molecular functions related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fatty-acyl-CoA bindingGO:00000629.5SOAT1, SOAT2

Sources for Focal Dermal Hypoplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet