MCID: FCL009
MIFTS: 54

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 52 11 23 48 24 25 54 70 27 12 39 13 68
Goltz Syndrome 11 23 48 24 25 54 70
Goltz-Gorlin Syndrome 23 48 24 25 54 70
Fodh 48 24 70
 
Fdh 48 24 70
Goltz Gorlin Syndrome 48 70
Dhof 48 70

Characteristics:

Orphanet epidemiological data:

54
focal dermal hypoplasia:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
focal dermal hypoplasia:
Inheritance: x-linked dominant inheritance

GeneReviews:

23
Penetrance: focal dermal hypoplasia appears to be highly penetrant in females, but the phenotypic severity can occasionally be mitigated by skewed x-chromosome inactivation...


Classifications:



External Ids:

OMIM52 305600
Disease Ontology11 DOID:2120
MeSH39 D005489
NCIt45 C84715
Orphanet54 ORPHA2092
SNOMED-CT62 205573006, 2298005
MESH via Orphanet40 D005489
ICD10 via Orphanet31 Q82.8
UMLS via Orphanet69 C0016395
MedGen37 C0016395

Summaries for Focal Dermal Hypoplasia

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NIH Rare Diseases:48 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 is WNT ligand biogenesis and trafficking. Affiliated tissues include skin, eye and retina, and related mouse phenotypes are muscle and craniofacial.

Genetics Home Reference:25 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.

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 Focal dermal hypoplasia (also known as \"Goltz syndrome\") is a form of ectodermal dysplasia. It is a... more...

Description from OMIM:52 305600

GeneReviews 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 72)
idRelated DiseaseScoreTop Affiliating Genes
1basal cell nevus syndrome11.6
2focal facial dermal dysplasia11.0
3osteopathia striata with cranial sclerosis11.0
4nevoid hypermelanosis, linear and whorled10.8
5boutonneuse fever10.3ALB, CD79A
6vesicoureteral reflux10.3ALB, CD79A
7testicular brenner tumor10.3ALB, CD79A
8hematocele of tunica vaginalis testis10.3ALB, CD79A
9adie pupil10.3ALB, CD79A
10acute gonococcal cervicitis10.3ALB, CD79A
11mesangial proliferative glomerulonephritis10.3ALB, CD79A
12smoldering myeloma10.3ALB, CD79A
13chromoblastomycosis10.3ALB, CD79A
14spastic monoplegia10.3ALB, CD79A
15mast cell neoplasm10.3ALB, CD79A
16balantidiasis10.3ALB, CD79A
17autoimmune disease of cardiovascular system10.3ALB, CD79A
18urinary bladder posterior wall cancer10.3ALB, CD79A
19lacrimal gland carcinoma10.3ALB, CD79A
20kidney angiomyolipoma10.3ALB, CD79A
21adenocarcinoma10.3ALB, CD79A
22pancreatic vasoactive intestinal peptide producing tumor10.3ALB, CD79A
23benign lymphoepithelial lesion of salivary gland10.3ALB, CD79A
24achilles bursitis10.3ALB, CD79A
25sarcoid meningitis10.2ALB, CD79A
26extrahepatic cholestasis10.2ALB, CD79A
27lymphopenia10.2ALB, CD79A
28nasopharyngeal carcinoma 210.2ALB, CD79A
29bartter disease10.2ALB, CD79A
30opportunistic bacterial infectious disease10.2ALB, CD79A
31arcus senilis10.2ALB, CD79A
32uterine corpus dissecting leiomyoma10.2ALB, CD79A
33taylor's syndrome10.2ALB, CD79A
34mixed lacrimal gland cancer10.2ALB, CD79A
35post-traumatic stress disorder10.1CD79A, HCCS
36rectum leiomyosarcoma10.1ALB, CD79A
37laryngeal tuberculosis10.1ALB, CD79A
38exocrine pancreatic insufficiency10.1ALB, CD79A
39central pontine myelinolysis10.1ALB, CD79A
40congenital disorder of glycosylation, type ih10.0ALB, CD79A
41basal cell carcinoma10.0
42papilloma10.0
43squamous cell papilloma10.0ALB, CD79A
44granuloma annulare10.0ALB, CD79A
45hydrocephalus9.9
46myelomeningocele9.9
47retinitis9.9
48perianal skin paget's disease9.9ALB, CD79A
49aneurysmal bone cysts9.7
50taurodontism9.7

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



Diseases related to focal dermal hypoplasia

Symptoms & Phenotypes for Focal Dermal Hypoplasia

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Symptoms by clinical synopsis from OMIM:

305600

Clinical features from OMIM:

305600

Human phenotypes related to Focal Dermal Hypoplasia:

 64 54 (show all 142)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set, posteriorly rotated ears64 hallmark (90%) HP:0000368
2 abnormality of dental enamel64 54 hallmark (90%) Very frequent (99-80%) HP:0000682
3 thin skin64 54 hallmark (90%) Very frequent (99-80%) HP:0000963
4 hypermelanotic macule64 hallmark (90%) HP:0001034
5 hand polydactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001161
6 split hand64 54 hallmark (90%) Very frequent (99-80%) HP:0001171
7 abnormality of the nail64 54 hallmark (90%) Very frequent (99-80%) HP:0001597
8 toe syndactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001770
9 split foot64 54 hallmark (90%) Very frequent (99-80%) HP:0001839
10 dermal atrophy64 54 hallmark (90%) Very frequent (99-80%) HP:0004334
11 abnormality of epiphysis morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0005930
12 finger syndactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0006101
13 abnormality of dental morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0006482
14 reduced number of teeth64 54 hallmark (90%) Very frequent (99-80%) HP:0009804
15 camptodactyly of finger64 54 hallmark (90%) Very frequent (99-80%) HP:0100490
16 lower limb asymmetry64 54 hallmark (90%) Very frequent (99-80%) HP:0100559
17 telangiectasia of the skin64 hallmark (90%) HP:0100585
18 rough bone trabeculation64 54 hallmark (90%) Very frequent (99-80%) HP:0100670
19 verrucae64 hallmark (90%) HP:0200043
20 multicystic kidney dysplasia64 54 typical (50%) Frequent (79-30%) HP:0000003
21 facial asymmetry64 54 typical (50%) Frequent (79-30%) HP:0000324
22 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
23 iris coloboma64 54 typical (50%) Frequent (79-30%) HP:0000612
24 dental malocclusion64 typical (50%) HP:0000689
25 abnormality of the ribs64 typical (50%) HP:0000772
26 abnormality of the clavicle64 typical (50%) HP:0000889
27 ectopia lentis64 54 typical (50%) Frequent (79-30%) HP:0001083
28 choroideremia64 typical (50%) HP:0001139
29 alopecia64 54 typical (50%) Frequent (79-30%) HP:0001596
30 spina bifida64 54 typical (50%) Frequent (79-30%) HP:0002414
31 abnormality of pelvic girdle bone morphology64 typical (50%) HP:0002644
32 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
33 opacification of the corneal stroma64 typical (50%) HP:0007759
34 aplasia/hypoplasia of the iris64 typical (50%) HP:0008053
35 abnormal localization of kidney64 typical (50%) HP:0100542
36 cognitive impairment64 54 typical (50%) Frequent (79-30%) HP:0100543
37 pointed chin64 54 occasional (7.5%) Occasional (29-5%) HP:0000307
38 narrow nasal bridge64 54 occasional (7.5%) Occasional (29-5%) HP:0000446
39 congenital diaphragmatic hernia64 54 occasional (7.5%) Occasional (29-5%) HP:0000776
40 umbilical hernia64 54 occasional (7.5%) Occasional (29-5%) HP:0001537
41 omphalocele64 54 occasional (7.5%) Occasional (29-5%) HP:0001539
42 ventricular septal defect64 54 occasional (7.5%) Occasional (29-5%) HP:0001629
43 patent ductus arteriosus64 54 occasional (7.5%) Occasional (29-5%) HP:0001643
44 abdominal pain64 54 occasional (7.5%) Occasional (29-5%) HP:0002027
45 abnormality of the pulmonary vasculature64 54 occasional (7.5%) Occasional (29-5%) HP:0004930
46 acute hepatic failure64 54 occasional (7.5%) Occasional (29-5%) HP:0006554
47 aplasia/hypoplasia of the lungs64 54 occasional (7.5%) Occasional (29-5%) HP:0006703
48 renal hypoplasia/aplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0008678
49 abnormality of adipose tissue64 54 occasional (7.5%) Occasional (29-5%) HP:0009124
50 neoplasm of the skeletal system64 occasional (7.5%) HP:0010622
51 abnormality of the mediastinum64 54 occasional (7.5%) Occasional (29-5%) HP:0045026
52 duodenal stenosis64 occasional (7.5%) HP:0100867
53 inguinal hernia64 54 Occasional (29-5%) HP:0000023
54 cryptorchidism64 HP:0000028
55 clitoral hypoplasia64 HP:0000060
56 labial hypoplasia64 HP:0000066
57 ureteral duplication64 HP:0000073
58 horseshoe kidney64 54 Frequent (79-30%) HP:0000085
59 hydronephrosis64 54 Occasional (29-5%) HP:0000126
60 cleft palate64 HP:0000175
61 cleft upper lip64 HP:0000204
62 hydrocephalus64 HP:0000238
63 microcephaly64 HP:0000252
64 low-set ears64 54 Very frequent (99-80%) HP:0000369
65 abnormality of the pinna64 HP:0000377
66 stenosis of the external auditory canal64 HP:0000402
67 mixed hearing impairment64 HP:0000410
68 broad nasal tip64 HP:0000455
69 visual impairment64 HP:0000505
70 aniridia64 HP:0000526
71 anophthalmia64 HP:0000528
72 chorioretinal coloboma64 54 Frequent (79-30%) HP:0000567
73 microphthalmia64 54 Frequent (79-30%) HP:0000568
74 nystagmus64 HP:0000639
75 optic atrophy64 HP:0000648
76 hypodontia64 HP:0000668
77 oligodontia64 HP:0000677
78 delayed eruption of teeth64 HP:0000684
79 short ribs64 54 Frequent (79-30%) HP:0000773
80 telangiectasia64 HP:0001009
81 brachydactyly syndrome64 HP:0001156
82 postaxial hand polydactyly64 HP:0001162
83 hand oligodactyly64 HP:0001180
84 intellectual disability64 HP:0001249
85 agenesis of corpus callosum64 HP:0001274
86 congenital hip dislocation64 HP:0001374
87 joint laxity64 HP:0001388
88 diastasis recti64 54 Frequent (79-30%) HP:0001540
89 anteriorly placed anus64 HP:0001545
90 abnormality of the larynx64 HP:0001600
91 absent toenail64 HP:0001802
92 absent fingernail64 HP:0001817
93 foot polydactyly64 HP:0001829
94 foot oligodactyly64 HP:0001849
95 hiatus hernia64 HP:0002036
96 nail dysplasia64 HP:0002164
97 patchy alopecia64 HP:0002232
98 brittle hair64 HP:0002299
99 arnold-chiari malformation64 HP:0002308
100 myelomeningocele64 HP:0002475
101 hypoplastic nipples64 HP:0002557
102 supernumerary nipple64 HP:0002558
103 intestinal malrotation64 HP:0002566
104 cleft ala nasi64 HP:0003191
105 spina bifida occulta64 HP:0003298
106 short stature64 HP:0004322
107 hypoplasia of dental enamel64 HP:0006297
108 midclavicular hypoplasia64 HP:0006608
109 midclavicular aplasia64 HP:0006638
110 linear hyperpigmentation64 HP:0007546
111 reticular hyperpigmentation64 HP:0007588
112 reduced visual acuity64 HP:0007663
113 sparse hair64 HP:0008070
114 short finger64 HP:0009381
115 short phalanx of finger64 HP:0009803
116 short metacarpal64 HP:0010049
117 osteopathia striata64 HP:0010740
118 short metatarsal64 HP:0010743
119 bifid ureter64 HP:0030037
120 abnormality of the teeth54 Frequent (79-30%)
121 hearing impairment54 Very frequent (99-80%)
122 abnormality of the middle ear54 Very frequent (99-80%)
123 short clavicles54 Frequent (79-30%)
124 abnormality of skin pigmentation54 Very frequent (99-80%)
125 abnormal palmar dermatoglyphics54 Very frequent (99-80%)
126 subcutaneous nodule54 Frequent (79-30%)
127 abnormality of the cardiac septa54 Occasional (29-5%)
128 gastroesophageal reflux54 Occasional (29-5%)
129 duodenal atresia54 Occasional (29-5%)
130 hypoplasia of the iris54 Frequent (79-30%)
131 corneal opacity54 Frequent (79-30%)
132 aplasia/hypoplasia of the skin54 Very frequent (99-80%)
133 hypoplastic pelvis54 Frequent (79-30%)
134 erythema54 Frequent (79-30%)
135 open bite54 Frequent (79-30%)
136 giant cell tumor of bone54 Occasional (29-5%)
137 macule54 Very frequent (99-80%)
138 papilloma54 Very frequent (99-80%)
139 upper limb asymmetry54 Very frequent (99-80%)
140 teleangiectasia of the skin54 Very frequent (99-80%)
141 hernia54 Very frequent (99-80%)
142 skin nodule54 Frequent (79-30%)

UMLS symptoms related to Focal Dermal Hypoplasia:


joint laxity

MGI Mouse Phenotypes related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.2ALB, HCCS, PTCH1, WNT3A
2MP:00053829.2OFD1, PORCN, PTCH1, WNT3A
3MP:00053719.2OFD1, PORCN, PTCH1, WNT3A
4MP:00028738.8ALB, CD79A, HCCS, PORCN, PTCH1
5MP:00053818.7ALB, OFD1, PORCN, PTCH1, WNT3A
6MP:00053808.6HCCS, OFD1, PORCN, PTCH1, WNT3A
7MP:00107688.1ALB, HCCS, OFD1, PORCN, PTCH1, WNT3A
8MP:00053677.4ALB, CD79A, OFD1, PORCN, PTCH1, WNT3A

Drugs & Therapeutics for Focal Dermal Hypoplasia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
2Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)CompletedNCT01350115Phase 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 Hypoplasia27 24 PORCN

Anatomical Context for Focal Dermal Hypoplasia

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MalaCards organs/tissues related to Focal Dermal Hypoplasia:

36
Skin, Eye, Retina, Bone, Kidney, Lung, Uterus

Publications for Focal Dermal Hypoplasia

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Articles related to Focal Dermal Hypoplasia:

(show top 50)    (show all 189)
idTitleAuthorsYear
1
Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. (27001926)
2016
2
Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome). (27001925)
2016
3
Two female cases of focal dermal hypoplasia: One new case with a novel variant in PORCN (c.808_811delGGGG). (28012187)
2016
4
Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant. (27904205)
2016
5
Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia. (28025844)
2016
6
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. (27623003)
2016
7
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia. (26603014)
2016
8
Focal Dermal Hypoplasia or Goltz Syndrome: A Rare Association with Keratoconus. (26955112)
2016
9
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). (26858134)
2016
10
Oral phenotype and variation in focal dermal hypoplasia. (26843121)
2016
11
Cognitive and psychological functioning in focal dermal hypoplasia. (26818018)
2016
12
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. (26853229)
2016
13
Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin. (25640089)
2015
14
Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis. (25451153)
2015
15
DETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA. (26349189)
2015
16
Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia. (26078738)
2015
17
Severe abdominal wall defect leading to dehiscence in focal dermal hypoplasia (Goltz syndrome). (25751343)
2015
18
Focal dermal hypoplasia: a rare case report. (25657436)
2015
19
Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up. (26470739)
2015
20
Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold-Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome. (24387693)
2014
21
Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia. (24698628)
2014
22
Focal dermal hypoplasia: updates. (23463902)
2014
23
Focal dermal hypoplasia without focal dermal hypoplasia. (24357603)
2013
24
Zygotic porcn paternal allele deletion in mice to model human focal dermal hypoplasia. (24223895)
2013
25
Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients. (23399492)
2013
26
Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome. (23131169)
2013
27
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. (23696273)
2013
28
A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene. (22735390)
2013
29
Cutaneous atrophic guttate lesions in a linear and reticulate pattern: a quiz. Diagnosis: Focal dermal hypoplasia (Goltz syndrome). (22688728)
2013
30
A case report of focal dermal hypoplasia-Goltz syndrome. (23984248)
2013
31
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. (22250236)
2012
32
Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). (22412863)
2012
33
Spontaneous patella fracture presenting as osteomyelitis in focal dermal hypoplasia. (22000280)
2012
34
Treatment of recalcitrant excessive granulation tissue with photodynamic therapy in an eight-year-old patient with focal dermal hypoplasia syndrome. (21995324)
2012
35
Epilepsy in a patient with focal dermal hypoplasia. (21215914)
2011
36
Esophageal papillomas and skin abnormalities. Focal dermal hypoplasia (Goltz syndrome) manifesting with esophageal papillomatosis. (21272558)
2011
37
A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient. (21332693)
2011
38
Focal dermal hypoplasia in a male. (25386262)
2011
39
Focal dermal hypoplasia with uterus bicornis and renal ectopia: case report and review of the literature. (21941481)
2011
40
Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. (21768372)
2011
41
Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion. (20626533)
2011
42
Focal dermal hypoplasia: a case report and literature review. (21684779)
2011
43
Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype. (21133992)
2011
44
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. (20854095)
2010
45
Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome). (21078256)
2010
46
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth. (20704476)
2010
47
Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report. (21092077)
2010
48
Oral manifestations associated with focal dermal hypoplasia. (19321948)
2009
49
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. (19277062)
2009
50
PORCN mutations in focal dermal hypoplasia: coping with lethality. (19309688)
2009

Variations for Focal Dermal Hypoplasia

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

70 (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)SNVPathogenicrs267606973GRCh37Chr X, 48369724: 48369724
3PORCNNM_203473.2(PORCN): c.370C> T (p.Arg124Ter)SNVPathogenicrs137852218GRCh37Chr X, 48370320: 48370320
4PORCNNM_203473.2(PORCN): c.222G> A (p.Trp74Ter)SNVPathogenicrs137852219GRCh37Chr X, 48369768: 48369768
5PORCNNM_203473.2(PORCN): c.1094G> A (p.Arg365Gln)SNVPathogenicrs387906723GRCh37Chr X, 48374470: 48374470

Copy number variations for Focal Dermal Hypoplasia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1263165X4730000049700000MicrodeletionsPORCNfocal 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
9.6PORCN, WNT3A

GO Terms for genes affiliated with Focal Dermal Hypoplasia

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Cellular components related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle membraneGO:00306669.5PTCH1, WNT3A

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

idNameGO IDScoreTop Affiliating Genes
1canonical Wnt signaling pathwayGO:006007010.0PORCN, WNT3A
2dorsal/ventral neural tube patterningGO:00219049.9PTCH1, WNT3A
3mammary gland developmentGO:00308799.5PTCH1, WNT3A

Sources for Focal Dermal Hypoplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet