MCID: FCL009
MIFTS: 52

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 50 11 22 46 23 24 13 52 68 25 12 37 66
Goltz Syndrome 11 22 46 23 24 52 68
Goltz-Gorlin Syndrome 22 46 23 24 52 68
Fodh 46 23 68
 
Fdh 46 23 68
Goltz Gorlin Syndrome 46 68
Dhof 46 68

Characteristics:

Orphanet epidemiological data:

52
focal dermal hypoplasia:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

62
focal dermal hypoplasia:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM50 305600
Disease Ontology11 DOID:2120
MeSH37 D005489
NCIt43 C84715
Orphanet52 ORPHA2092
SNOMED-CT60 205573006, 2298005
UMLS via Orphanet67 C0016395
ICD10 via Orphanet29 Q82.8
MESH via Orphanet38 D005489
MedGen35 C0016395

Summaries for Focal Dermal Hypoplasia

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NIH Rare Diseases:46 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 low-set, posteriorly rotated ears, abnormality of dental enamel and thin skin. An important gene associated with Focal Dermal Hypoplasia is PORCN (Porcupine Homolog (Drosophila)), and among its related pathways are WNT ligand biogenesis and trafficking and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, eye and retina, and related mouse phenotypes are limbs/digits/tail and muscle.

UniProtKB/Swiss-Prot:68 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:24 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:69 Focal dermal hypoplasia (also known as \"Goltz syndrome\") is a form of ectodermal dysplasia. It is a... more...

Description from OMIM:50 305600

GeneReviews summary for NBK1543

Related Diseases for Focal Dermal Hypoplasia

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Diseases related to Focal Dermal Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1basal cell nevus syndrome11.6
2focal facial dermal dysplasia11.2
3boutonneuse fever10.5ALB, CD79A
4vesicoureteral reflux10.5ALB, CD79A
5testicular brenner tumor10.5ALB, CD79A
6hematocele of tunica vaginalis testis10.5ALB, CD79A
7adie pupil10.5ALB, CD79A
8acute gonococcal cervicitis10.5ALB, CD79A
9mesangial proliferative glomerulonephritis10.5ALB, CD79A
10smoldering myeloma10.5ALB, CD79A
11chromoblastomycosis10.5ALB, CD79A
12spastic monoplegia10.5ALB, CD79A
13mast cell neoplasm10.5ALB, CD79A
14balantidiasis10.5ALB, CD79A
15autoimmune disease of cardiovascular system10.5ALB, CD79A
16urinary bladder posterior wall cancer10.5ALB, CD79A
17oculocerebrorenal syndrome10.5ALB, CD79A
18lacrimal gland carcinoma10.5ALB, CD79A
19kidney angiomyolipoma10.5ALB, CD79A
20adenocarcinoma10.5ALB, CD79A
21pancreatic vasoactive intestinal peptide producing tumor10.5ALB, CD79A
22benign lymphoepithelial lesion of salivary gland10.5ALB, CD79A
23achilles bursitis10.4ALB, CD79A
24sarcoid meningitis10.4ALB, CD79A
25extrahepatic cholestasis10.4ALB, CD79A
26post-traumatic stress disorder10.4CD79A, HCCS
27lymphopenia10.4ALB, CD79A
28nasopharyngeal carcinoma 210.4ALB, CD79A
29bartter disease10.4ALB, CD79A
30opportunistic bacterial infectious disease10.4ALB, CD79A
31arcus senilis10.4ALB, CD79A
32uterine corpus dissecting leiomyoma10.4ALB, CD79A
33taylor's syndrome10.3ALB, CD79A
34mixed lacrimal gland cancer10.3ALB, CD79A
35rectum leiomyosarcoma10.3ALB, CD79A
36mononeuritis10.3ALB, CD79A
37laryngeal tuberculosis10.2ALB, CD79A
38exocrine pancreatic insufficiency10.2ALB, CD79A
39central pontine myelinolysis10.1ALB, CD79A
40perianal skin paget's disease10.1ALB, CD79A
41basal cell carcinoma10.1
42dermochondrocorneal dystrophy10.1CD79A, TP63
43osteopathia striata with cranial sclerosis10.1
44papilloma10.1
45yellow fever10.0CD79A, TP63
46pulmonary alveolar proteinosis10.0CD79A, TP63
47congenital disorder of glycosylation, type ih10.0ALB, CD79A
48hydrocephalus10.0
49myelomeningocele10.0
50retinitis10.0

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:

 52 (show all 69)
  • multicystic kidney dysplasia
  • inguinal hernia
  • horseshoe kidney
  • hydronephrosis
  • abnormality of the teeth
  • pointed chin
  • facial asymmetry
  • hearing impairment
  • low-set ears
  • abnormality of the middle ear
  • narrow nasal bridge
  • strabismus
  • chorioretinal coloboma
  • microphthalmos
  • iris coloboma
  • abnormality of dental enamel
  • short ribs
  • congenital diaphragmatic hernia
  • short clavicles
  • thin skin
  • abnormality of skin pigmentation
  • abnormal palmar dermatoglyphics
  • ectopia lentis
  • hand polydactyly
  • split hand
  • subcutaneous nodule
  • umbilical hernia
  • omphalocele
  • diastasis recti
  • alopecia
  • abnormality of the nail
  • ventricular septal defect
  • patent ductus arteriosus
  • abnormality of the cardiac septa
  • toe syndactyly
  • split foot
  • gastroesophageal reflux
  • abdominal pain
  • duodenal atresia
  • spina bifida
  • scoliosis
  • dermal atrophy
  • abnormality of the pulmonary vasculature
  • abnormality of epiphysis morphology
  • finger syndactyly
  • abnormality of dental morphology
  • acute hepatic failure
  • aplasia/hypoplasia of the lungs
  • hypoplasia of the iris
  • corneal opacity
  • aplasia/hypoplasia of the skin
  • renal hypoplasia/aplasia
  • hypoplastic pelvis
  • abnormality of adipose tissue
  • reduced number of teeth
  • erythema
  • open bite
  • giant cell tumor of bone
  • macule
  • papilloma
  • abnormality of the mediastinum
  • camptodactyly of finger
  • cognitive impairment
  • lower limb asymmetry
  • upper limb asymmetry
  • teleangiectasia of the skin
  • rough bone trabeculation
  • hernia
  • skin nodule

HPO human phenotypes related to Focal Dermal Hypoplasia:

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

UMLS symptoms related to Focal Dermal Hypoplasia:


joint laxity

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 Hypoplasia25 23 PORCN

Anatomical Context for Focal Dermal Hypoplasia

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MalaCards organs/tissues related to Focal Dermal Hypoplasia:

34
Skin, Eye, Retina, Bone, Kidney, Lung, Uterus

Animal Models for Focal Dermal Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Focal Dermal Hypoplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.2OFD1, PORCN, TP63, WNT3A
2MP:00053698.1ALB, HCCS, HMBS, TP63, WNT3A
3MP:00053817.9ALB, OFD1, PORCN, TP63, WNT3A
4MP:00028737.6ALB, CD79A, HCCS, HMBS, PORCN, TP63
5MP:00053807.4EBP, HCCS, OFD1, PORCN, TP63, WNT3A
6MP:00053676.8ALB, CD79A, HMBS, OFD1, PORCN, TP63
7MP:00107686.5ALB, EBP, HCCS, HMBS, OFD1, PORCN

Publications for Focal Dermal Hypoplasia

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Articles related to Focal Dermal Hypoplasia:

(show top 50)    (show all 186)
idTitleAuthorsYear
1
Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. (27001926)
2016
2
Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin. (25640089)
2015
3
Focal dermal hypoplasia without focal dermal hypoplasia. (24357603)
2013
4
Zygotic porcn paternal allele deletion in mice to model human focal dermal hypoplasia. (24223895)
2013
5
Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients. (23399492)
2013
6
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. (22250236)
2012
7
Epilepsy in a patient with focal dermal hypoplasia. (21215914)
2011
8
Esophageal papillomas and skin abnormalities. Focal dermal hypoplasia (Goltz syndrome) manifesting with esophageal papillomatosis. (21272558)
2011
9
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. (20854095)
2010
10
Oral manifestations associated with focal dermal hypoplasia. (19321948)
2009
11
Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. (17951029)
2008
12
Wnt signaling in focal dermal hypoplasia. (17597772)
2007
13
Focal dermal hypoplasia (Goltz syndrome). (16394441)
2005
14
Focal dermal hypoplasia (Goltz-Gorlin syndrome). (12666897)
2002
15
Focal dermal hypoplasia. Goltz syndrome. A case report. (11221530)
2001
16
Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx. (10586128)
1999
17
Retinal neovascularisation in Goltz syndrome (focal dermal hypoplasia) (10636691)
1999
18
Mucosal lesions in focal dermal hypoplasia syndrome. (11507512)
1999
19
Focal dermal hypoplasia syndrome. (20921687)
1999
20
A family presenting Goltz syndrome (focal dermal hypoplasia) in three generations. (10028871)
1998
21
What syndrome is this? Focal dermal hypoplasia (Goltz syndrome). (9796596)
1998
22
Focal dermal hypoplasia (Goltz's syndrome). (9361312)
1997
23
Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome. (9220199)
1997
24
Electronmicroscopic observation of the basement membrane zone in focal dermal hypoplasia. (8919515)
1996
25
Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition. (8882775)
1996
26
Focal dermal hypoplasia (Goltz syndrome). (20952892)
1995
27
Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome). (7639315)
1995
28
Focal Dermal Hypoplasia (20301712)
1993
29
Focal dermal hypoplasia (Goltz-Gorlin syndrome). (7654591)
1993
30
Focal dermal hypoplasia syndrome. An update. (1497368)
1992
31
Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism. (1951439)
1991
32
Anophthalmia in the focal dermal hypoplasia syndrome. (2404489)
1990
33
Focal dermal hypoplasia (Goltz syndrome). (2325092)
1990
34
The radiological features of Goltz syndrome: focal dermal hypoplasia. A report of two cases. (3201278)
1988
35
Focal dermal hypoplasia syndrome. Case report and literature review. (6630607)
1983
36
Giant cell tumour of bone in focal dermal hypoplasia. (6883033)
1983
37
A case of focal dermal hypoplasia. (7083620)
1982
38
Focal dermal hypoplasia (Goltz's syndrome) with an expansile iliac lesion. A case report. (7204450)
1981
39
Focal dermal hypoplasia syndrome: (a case report). (7346416)
1981
40
Omphalocele and focal dermal hypoplasia. (7340281)
1981
41
Focal dermal hypoplasia: abnormal growth characteristics of skin fibroblasts in culture. (7410885)
1980
42
Focal dermal hypoplasia. (581773)
1979
43
Focal dermal hypoplasia syndrome (a case report). (700884)
1978
44
Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism? (843447)
1977
45
Focal dermal hypoplasia (Goltz's syndrome) manifesting as condyloma acuminatum: report of a case and review of the literature. (188606)
1977
46
A case of focal dermal hypoplasia (Goltz syndrome) with some new aspects. (842347)
1977
47
Ocular manifestations of focal dermal hypoplasia syndrome. (200206)
1977
48
Agenesis of the corpus callosum in a case of focal dermal hypoplasia. (5312676)
1970
49
Picture of the month. Focal dermal hypoplasia (Goltz's syndrome). (4310577)
1969
50
Focal dermal hypoplasia. (5763557)
1969

Variations for Focal Dermal Hypoplasia

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

68 (show all 15)
id Symbol AA change Variation ID SNP ID
1PORCNp.Gly60ArgVAR_035089rs267606973
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

Copy number variations for Focal Dermal Hypoplasia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
126316504730000049700000MicrodeletionsPORCNfocal dermal hypoplasia

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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Pathways related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5PORCN, WNT3A
28.7ALB, TP63, WNT3A

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
1post-anal tail morphogenesisGO:00363429.0TP63, WNT3A

Sources for Focal Dermal Hypoplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet