FODH
MCID: FCL009
MIFTS: 54

Focal Dermal Hypoplasia (FODH) 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 joint laxity, joint laxity and Array. An important gene associated with Focal Dermal Hypoplasia is PORCN (Porcupine O-Acyltransferase), and among its related pathways is WNT ligand biogenesis and trafficking. Affiliated tissues include skin, eye and retina, and related mouse phenotypes are craniofacial and limbs/digits/tail.

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.

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.

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
5atopic dermatitis 610.2ALB, CD79A
6colloid adenoma10.2ALB, CD79A
7schneiderian carcinoma10.2ALB, CD79A
8striatonigral degeneration10.2ALB, CD79A
9infertility due to extratesticular cause10.2ALB, CD79A
10congenital nystagmus10.2ALB, CD79A
11male genital organ stricture10.2ALB, CD79A
12eosinophilic gastroenteritis10.2PORCN, PTCH1
13coronary artery dissection, spontaneous10.2ALB, CD79A
14acute cervicitis10.2ALB, CD79A
15ciliary discoordination, due to random ciliary orientation10.2ALB, CD79A
16angiokeratoma10.2ALB, CD79A
17venezuelan equine encephalitis10.2ALB, CD79A
18dermatomycosis10.2ALB, CD79A
19mikulicz disease10.2ALB, CD79A
20epiphora due to excess lacrimation10.2PORCN, PTCH1
21malignant hyperthermia susceptibility 110.2ALB, CD79A
22hemiplegia10.2ALB, CD79A
23spastic entropion10.2ALB, CD79A
24bronchiolitis10.2ALB, CD79A
25autonomic peripheral neuropathy10.1ALB, CD79A
26bladder sarcoma10.1ALB, CD79A
27early yaws10.1ALB, CD79A
28choreatic disease10.1ALB, CD79A
29breast apocrine carcinoma in situ10.1ALB, CD79A
30breasts and/or nipples, aplasia or hypoplasia of, 210.1PORCN, PTCH1
31paranasal sinus sarcoma10.1ALB, CD79A
32y-linked disease10.1PORCN, PTCH1
33mixed germ cell-sex cord neoplasm10.1ALB, CD79A
34anterior foramen magnum meningioma10.1ALB, CD79A
35chronic mucocutaneous candidiasis10.1CD79A, HCCS
36uterine ligament serous adenocarcinoma10.1ALB, CD79A
37familial nephrotic syndrome10.1ALB, CD79A
38familial renal papillary carcinoma10.1ALB, CD79A
39uterus interstitial leiomyoma10.0ALB, CD79A
40nephropathy with pretibial epidermolysis bullosa and deafness10.0ALB, CD79A
41uterine ligament clear cell adenocarcinoma10.0ALB, CD79A
42papilloma10.0
43fg syndrome 510.0ALB, CD79A
44basal cell carcinoma10.0
45foodborne botulism9.9ALB, CD79A
46hydrocephalus9.9
47myelomeningocele9.9
48esophagitis9.9
49retinitis9.9
50aneurysmal bone cysts9.7

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:

 54 64 (show all 131)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia64 54 Frequent (79-30%) HP:0000003
2 inguinal hernia64 54 Occasional (29-5%) HP:0000023
3 horseshoe kidney64 54 Frequent (79-30%) HP:0000085
4 hydronephrosis64 54 Occasional (29-5%) HP:0000126
5 abnormality of the teeth54 Frequent (79-30%)
6 pointed chin64 54 Occasional (29-5%) HP:0000307
7 facial asymmetry64 54 Frequent (79-30%) HP:0000324
8 hearing impairment64 54 Very frequent (99-80%) HP:0000365
9 low-set ears64 54 Very frequent (99-80%) HP:0000369
10 abnormality of the middle ear64 54 Very frequent (99-80%) HP:0000370
11 narrow nasal bridge64 54 Occasional (29-5%) HP:0000446
12 strabismus64 54 Frequent (79-30%) HP:0000486
13 chorioretinal coloboma64 54 Frequent (79-30%) HP:0000567
14 microphthalmia64 54 Frequent (79-30%) HP:0000568
15 iris coloboma64 54 Frequent (79-30%) HP:0000612
16 abnormality of dental enamel64 54 Very frequent (99-80%) HP:0000682
17 short ribs64 54 Frequent (79-30%) HP:0000773
18 congenital diaphragmatic hernia64 54 Occasional (29-5%) HP:0000776
19 short clavicles64 54 Frequent (79-30%) HP:0000894
20 thin skin64 54 Very frequent (99-80%) HP:0000963
21 abnormality of skin pigmentation64 54 Very frequent (99-80%) HP:0001000
22 abnormal palmar dermatoglyphics64 54 Very frequent (99-80%) HP:0001018
23 ectopia lentis64 54 Frequent (79-30%) HP:0001083
24 hand polydactyly64 54 Very frequent (99-80%) HP:0001161
25 split hand64 54 Very frequent (99-80%) HP:0001171
26 subcutaneous nodule64 54 Frequent (79-30%) HP:0001482
27 umbilical hernia64 54 Occasional (29-5%) HP:0001537
28 omphalocele64 54 Occasional (29-5%) HP:0001539
29 diastasis recti64 54 Frequent (79-30%) HP:0001540
30 alopecia64 54 Frequent (79-30%) HP:0001596
31 abnormality of the nail64 54 Very frequent (99-80%) HP:0001597
32 ventricular septal defect64 54 Occasional (29-5%) HP:0001629
33 patent ductus arteriosus64 54 Occasional (29-5%) HP:0001643
34 abnormality of the cardiac septa54 Occasional (29-5%)
35 toe syndactyly64 54 Very frequent (99-80%) HP:0001770
36 split foot64 54 Very frequent (99-80%) HP:0001839
37 gastroesophageal reflux64 54 Occasional (29-5%) HP:0002020
38 abdominal pain64 54 Occasional (29-5%) HP:0002027
39 duodenal atresia64 54 Occasional (29-5%) HP:0002247
40 spina bifida64 54 Frequent (79-30%) HP:0002414
41 scoliosis64 54 Frequent (79-30%) HP:0002650
42 dermal atrophy64 54 Very frequent (99-80%) HP:0004334
43 abnormality of the pulmonary vasculature64 54 Occasional (29-5%) HP:0004930
44 abnormality of epiphysis morphology64 54 Very frequent (99-80%) HP:0005930
45 finger syndactyly64 54 Very frequent (99-80%) HP:0006101
46 abnormality of dental morphology64 54 Very frequent (99-80%) HP:0006482
47 acute hepatic failure64 54 Occasional (29-5%) HP:0006554
48 aplasia/hypoplasia of the lungs64 54 Occasional (29-5%) HP:0006703
49 hypoplasia of the iris64 54 Frequent (79-30%) HP:0007676
50 corneal opacity64 54 Frequent (79-30%) HP:0007957
51 aplasia/hypoplasia of the skin54 Very frequent (99-80%)
52 renal hypoplasia/aplasia64 54 Occasional (29-5%) HP:0008678
53 hypoplastic pelvis64 54 Frequent (79-30%) HP:0008839
54 abnormality of adipose tissue64 54 Occasional (29-5%) HP:0009124
55 reduced number of teeth64 54 Very frequent (99-80%) HP:0009804
56 erythema64 54 Frequent (79-30%) HP:0010783
57 open bite64 54 Frequent (79-30%) HP:0010807
58 giant cell tumor of bone64 54 Occasional (29-5%) HP:0011847
59 macule64 54 Very frequent (99-80%) HP:0012733
60 papilloma64 54 Very frequent (99-80%) HP:0012740
61 abnormality of the mediastinum64 54 Occasional (29-5%) HP:0045026
62 camptodactyly of finger64 54 Very frequent (99-80%) HP:0100490
63 cognitive impairment64 54 Frequent (79-30%) HP:0100543
64 lower limb asymmetry64 54 Very frequent (99-80%) HP:0100559
65 upper limb asymmetry64 54 Very frequent (99-80%) HP:0100560
66 teleangiectasia of the skin54 Very frequent (99-80%)
67 rough bone trabeculation64 54 Very frequent (99-80%) HP:0100670
68 hernia54 Very frequent (99-80%)
69 skin nodule54 Frequent (79-30%)
70 cryptorchidism64 HP:0000028
71 clitoral hypoplasia64 HP:0000060
72 labial hypoplasia64 HP:0000066
73 ureteral duplication64 HP:0000073
74 cleft palate64 HP:0000175
75 cleft upper lip64 HP:0000204
76 hydrocephalus64 HP:0000238
77 microcephaly64 HP:0000252
78 abnormality of the pinna64 HP:0000377
79 stenosis of the external auditory canal64 HP:0000402
80 mixed hearing impairment64 HP:0000410
81 broad nasal tip64 HP:0000455
82 visual impairment64 HP:0000505
83 aniridia64 HP:0000526
84 anophthalmia64 HP:0000528
85 nystagmus64 HP:0000639
86 optic atrophy64 HP:0000648
87 hypodontia64 HP:0000668
88 oligodontia64 HP:0000677
89 delayed eruption of teeth64 HP:0000684
90 dental malocclusion64 HP:0000689
91 telangiectasia64 HP:0001009
92 brachydactyly syndrome64 HP:0001156
93 postaxial hand polydactyly64 HP:0001162
94 hand oligodactyly64 HP:0001180
95 intellectual disability64 HP:0001249
96 agenesis of corpus callosum64 HP:0001274
97 congenital hip dislocation64 HP:0001374
98 joint laxity64 HP:0001388
99 anteriorly placed anus64 HP:0001545
100 abnormality of the larynx64 HP:0001600
101 absent toenail64 HP:0001802
102 absent fingernail64 HP:0001817
103 foot polydactyly64 HP:0001829
104 foot oligodactyly64 HP:0001849
105 hiatus hernia64 HP:0002036
106 nail dysplasia64 HP:0002164
107 patchy alopecia64 HP:0002232
108 brittle hair64 HP:0002299
109 arnold-chiari malformation64 HP:0002308
110 myelomeningocele64 HP:0002475
111 hypoplastic nipples64 HP:0002557
112 supernumerary nipple64 HP:0002558
113 intestinal malrotation64 HP:0002566
114 cleft ala nasi64 HP:0003191
115 spina bifida occulta64 HP:0003298
116 short stature64 HP:0004322
117 hypoplasia of dental enamel64 HP:0006297
118 midclavicular hypoplasia64 HP:0006608
119 midclavicular aplasia64 HP:0006638
120 linear hyperpigmentation64 HP:0007546
121 reticular hyperpigmentation64 HP:0007588
122 reduced visual acuity64 HP:0007663
123 sparse hair64 HP:0008070
124 nail dystrophy64 HP:0008404
125 short finger64 HP:0009381
126 short phalanx of finger64 HP:0009803
127 short metacarpal64 HP:0010049
128 osteopathia striata64 HP:0010740
129 short metatarsal64 HP:0010743
130 bifid ureter64 HP:0030037
131 telangiectasia of the skin64 HP:0100585

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:00053829.0OFD1, PORCN, PTCH1, WNT3A
2MP:00053719.0OFD1, PORCN, PTCH1, WNT3A
3MP:00028738.8ALB, CD79A, HCCS, PORCN, PTCH1
4MP:00053818.6ALB, OFD1, PORCN, PTCH1, WNT3A
5MP:00053808.4HCCS, OFD1, PORCN, PTCH1, WNT3A
6MP:00053677.4ALB, CD79A, OFD1, PORCN, PTCH1, WNT3A

Drugs & Therapeutics for Focal Dermal Hypoplasia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy, Safety and Tolerability of Topically Applied LDE225 Cream (Hedgehog Pathway Inhibitor) in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)WithdrawnNCT03070691Phase 2, Phase 3
2A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
3Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)CompletedNCT01350115Phase 2
4Study of Selected X-linked Disorders: Goltz SyndromeRecruitingNCT00691223
5Growth 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 194)
idTitleAuthorsYear
1
Almost Unilateral Focal Dermal Hypoplasia. (28223754)
2017
2
Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients. (28293688)
2017
3
Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis. (28405153)
2017
4
Focal dermal hypoplasia: inheritance from father to daughter. (28397289)
2017
5
Erratum to Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. (28422450)
2017
6
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. (26853229)
2016
7
Cognitive and psychological functioning in focal dermal hypoplasia. (26818018)
2016
8
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia. (26603014)
2016
9
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). (26858134)
2016
10
Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia. (28025844)
2016
11
Two female cases of focal dermal hypoplasia: One new case with a novel variant in PORCN (c.808_811delGGGG). (28012187)
2016
12
Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome). (27001925)
2016
13
Focal Dermal Hypoplasia or Goltz Syndrome: A Rare Association with Keratoconus. (26955112)
2016
14
Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. (27001926)
2016
15
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. (27623003)
2016
16
Oral phenotype and variation in focal dermal hypoplasia. (26843121)
2016
17
Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant. (27904205)
2016
18
Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis. (25451153)
2015
19
DETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA. (26349189)
2015
20
Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin. (25640089)
2015
21
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
22
Severe abdominal wall defect leading to dehiscence in focal dermal hypoplasia (Goltz syndrome). (25751343)
2015
23
Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia. (26078738)
2015
24
Focal dermal hypoplasia: a rare case report. (25657436)
2015
25
Focal dermal hypoplasia: updates. (23463902)
2014
26
Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia. (24698628)
2014
27
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
28
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
29
Zygotic porcn paternal allele deletion in mice to model human focal dermal hypoplasia. (24223895)
2013
30
Focal dermal hypoplasia without focal dermal hypoplasia. (24357603)
2013
31
A case report of focal dermal hypoplasia-Goltz syndrome. (23984248)
2013
32
Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome. (23131169)
2013
33
A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene. (22735390)
2013
34
Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients. (23399492)
2013
35
Cutaneous atrophic guttate lesions in a linear and reticulate pattern: a quiz. Diagnosis: Focal dermal hypoplasia (Goltz syndrome). (22688728)
2013
36
Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). (22412863)
2012
37
Spontaneous patella fracture presenting as osteomyelitis in focal dermal hypoplasia. (22000280)
2012
38
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. (22250236)
2012
39
Treatment of recalcitrant excessive granulation tissue with photodynamic therapy in an eight-year-old patient with focal dermal hypoplasia syndrome. (21995324)
2012
40
Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype. (21133992)
2011
41
Focal dermal hypoplasia with uterus bicornis and renal ectopia: case report and review of the literature. (21941481)
2011
42
A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient. (21332693)
2011
43
Epilepsy in a patient with focal dermal hypoplasia. (21215914)
2011
44
Esophageal papillomas and skin abnormalities. Focal dermal hypoplasia (Goltz syndrome) manifesting with esophageal papillomatosis. (21272558)
2011
45
Focal dermal hypoplasia: a case report and literature review. (21684779)
2011
46
Focal dermal hypoplasia in a male. (25386262)
2011
47
Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. (21768372)
2011
48
Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion. (20626533)
2011
49
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. (20854095)
2010
50
Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report. (21092077)
2010

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
6PORCNNM_ 203475.2(PORCN): c.565T> C (p.Trp189Arg)SNVLikely pathogenicrs1057519006GRCh37Chr X, 48370986: 48370986

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:00306669.4PTCH1, 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:00219049.8PTCH1, WNT3A
3mammary gland developmentGO:00308799.4PTCH1, 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