FODH
MCID: FCL009
MIFTS: 58

Focal Dermal Hypoplasia (FODH)

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

Aliases & Classifications for Focal Dermal Hypoplasia

MalaCards integrated aliases for Focal Dermal Hypoplasia:

Name: Focal Dermal Hypoplasia 58 12 77 25 54 26 60 76 38 30 13 6 45 15 74
Goltz Syndrome 58 12 77 25 54 26 60 76
Goltz-Gorlin Syndrome 58 25 54 26 60 76
Fodh 58 54 76
Dhof 58 54 76
Fdh 58 54 76
Goltz Gorlin Syndrome 54 76
Hypoplasia, Dermal, Focal 41
Fodh; Dhof 58

Characteristics:

Orphanet epidemiological data:

60
focal dermal hypoplasia
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
x-linked dominant

Miscellaneous:
majority of cases (95%) are sporadic
ninety percent of cases are female
affected males are all result of new mutation


HPO:

33
focal dermal hypoplasia:
Inheritance x-linked dominant inheritance


GeneReviews:

25
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:



Summaries for Focal Dermal Hypoplasia

NIH Rare Diseases : 54 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.

MalaCards based summary : Focal Dermal Hypoplasia, also known as goltz syndrome, is related to basal cell nevus syndrome and hyperthyroxinemia, familial dysalbuminemic. An important gene associated with Focal Dermal Hypoplasia is PORCN (Porcupine O-Acyltransferase), and among its related pathways/superpathways are Wnt signaling pathway and Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. Affiliated tissues include skin, bone and eye, and related phenotypes are low-set ears and abnormality of epiphysis morphology

Disease Ontology : 12 A X-linked dominant disease characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has material basis in heterozygous mutation in the PORCN gene on chromosome Xp11.23.

Genetics Home Reference : 26 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.

OMIM : 58 Focal dermal hypoplasia is inherited as an X-linked dominant with in utero lethality in males. The features include atrophy and linear pigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin. In addition, digital anomalies consist of syndactyly, polydactyly, camptodactyly, and absence deformities. Oral anomalies, in addition to lip papillomas, include hypoplastic teeth. Ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia) have also been present in some cases. Mental retardation occurs in some patients. Striated bones are probably a nearly constant feature (Larregue and Duterque, 1975; Happle and Lenz, 1977). Reports from the International Research Symposium on Goltz Syndrome in 2013 were published in the American Journal of Medical Genetics; the authors and subjects of the reports are listed in an introduction by Fete and Fete (2016). (305600)

UniProtKB/Swiss-Prot : 76 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 : 77 Focal dermal hypoplasia is a form of ectodermal dysplasia. It is a multisystem disorder characterized... more...

GeneReviews: NBK1543

Related Diseases for Focal Dermal Hypoplasia

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

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 basal cell nevus syndrome 32.6 PORCN PTCH1
2 hyperthyroxinemia, familial dysalbuminemic 11.5
3 focal facial dermal dysplasia 11.4
4 angioma serpiginosum, autosomal dominant 11.2
5 ectodermal dysplasia, trichoodontoonychial type 11.2
6 osteopathia striata with cranial sclerosis 11.2
7 encephalocraniocutaneous lipomatosis 11.2
8 nevoid hypermelanosis, linear and whorled 11.2
9 basal cell carcinoma 1 10.4
10 basal cell carcinoma 10.4
11 hyperthyroxinemia 10.3
12 papilloma 10.2
13 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.2
14 thoracoabdominal syndrome 10.2
15 pentalogy of cantrell 10.2
16 allergic hypersensitivity disease 10.1
17 hydrocephalus 10.1
18 myelomeningocele 10.1
19 root caries 10.1 ALB CD79A
20 chronic graft versus host disease 10.1 ALB CD79A
21 parotitis 10.1 ALB CD79A
22 protein-losing enteropathy 10.0 ALB CD79A
23 ulcerative stomatitis 10.0 ALB CD79A
24 hypersensitivity reaction type iii disease 10.0 ALB CD79A
25 lipoid nephrosis 10.0 ALB CD79A
26 keratoconjunctivitis sicca 10.0 ALB CD79A
27 meningoencephalitis 10.0 ALB CD79A
28 linear skin defects with multiple congenital anomalies 1 10.0
29 sclerocornea 10.0
30 giant cell tumor 10.0
31 membranoproliferative glomerulonephritis 10.0 ALB CD79A
32 glomerulonephritis 10.0 ALB CD79A
33 guillain-barre syndrome 10.0 ALB CD79A
34 nevus, epidermal 9.9
35 retinal detachment 9.9
36 split-hand/foot malformation 1 9.9
37 teeth present at birth 9.9
38 chiari malformation type ii 9.9
39 taurodontism 9.9
40 terminal osseous dysplasia 9.9
41 fryns microphthalmia syndrome 9.9
42 aneurysmal bone cysts 9.9
43 esophagitis, eosinophilic, 1 9.9
44 macrostomia, isolated 9.9
45 ectodermal dysplasia 9.9
46 keratoconus 9.9
47 fibroma 9.9
48 omphalocele 9.9
49 bone disease 9.9
50 osteomyelitis 9.9

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



Diseases related to Focal Dermal Hypoplasia

Symptoms & Phenotypes for Focal Dermal Hypoplasia

Human phenotypes related to Focal Dermal Hypoplasia:

60 33 (show top 50) (show all 130)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
3 finger syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0006101
4 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
5 abnormality of the nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001597
6 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
7 telangiectasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0100585
8 abnormality of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0000682
9 hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001161
10 reduced number of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009804
11 macule 60 33 hallmark (90%) Very frequent (99-80%) HP:0012733
12 split hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0001171
13 abnormality of dental morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0006482
14 abnormality of skin pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001000
15 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
16 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001770
17 lower limb asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0100559
18 papilloma 60 33 hallmark (90%) Very frequent (99-80%) HP:0012740
19 abnormality of the middle ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000370
20 abnormal palmar dermatoglyphics 60 33 hallmark (90%) Very frequent (99-80%) HP:0001018
21 rough bone trabeculation 60 33 hallmark (90%) Very frequent (99-80%) HP:0100670
22 upper limb asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0100560
23 split foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001839
24 dermal atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0004334
25 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
26 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
27 open bite 60 33 frequent (33%) Frequent (79-30%) HP:0010807
28 cognitive impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100543
29 subcutaneous nodule 60 33 frequent (33%) Frequent (79-30%) HP:0001482
30 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
31 horseshoe kidney 60 33 frequent (33%) Frequent (79-30%) HP:0000085
32 alopecia 60 33 frequent (33%) Frequent (79-30%) HP:0001596
33 chorioretinal coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000567
34 microphthalmia 60 33 frequent (33%) Frequent (79-30%) HP:0000568
35 multicystic kidney dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000003
36 ectopia lentis 60 33 frequent (33%) Frequent (79-30%) HP:0001083
37 hypoplasia of the iris 60 33 frequent (33%) Frequent (79-30%) HP:0007676
38 spina bifida 60 33 frequent (33%) Frequent (79-30%) HP:0002414
39 erythema 60 33 frequent (33%) Frequent (79-30%) HP:0010783
40 hypoplastic pelvis 60 33 frequent (33%) Frequent (79-30%) HP:0008839
41 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
42 facial asymmetry 60 33 frequent (33%) Frequent (79-30%) HP:0000324
43 diastasis recti 60 33 frequent (33%) Frequent (79-30%) HP:0001540
44 short clavicles 60 33 frequent (33%) Frequent (79-30%) HP:0000894
45 short ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000773
46 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
47 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
48 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
49 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
50 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
hearing loss, mixed
protruding, simple ears
narrow auditory canals

Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
iris coloboma
anophthalmia
more
Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Pelvis:
congenital hip dislocation
failure of pubic bone fusion

Head And Neck Nose:
broad nasal tip
narrow nasal bridge
notched nasal alae

Head And Neck Face:
pointed chin
facial asymmetry

Skeletal Hands:
short metacarpal
ectrodactyly
postaxial polydactyly
short phalanges
syndactyly (75%)
more
Skeletal Feet:
ectrodactyly
syndactyly
short metatarsal
polydactyly
missing toes
more
Genitourinary External Genitalia Female:
labial hypoplasia
clitoral hypoplasia

Skeletal Limbs:
osteopathia striata

Respiratory Larynx:
papillomatosis

Chest Diaphragm:
diaphragmatic hernia

Skeletal Skull:
asymmetric skull

Neurologic Central Nervous System:
agenesis of corpus callosum
hydrocephalus
arnold-chiari malformation
myelomeningocele
mental retardation (15%)

Skeletal Spine:
scoliosis
spina bifida occulta

Abdomen External Features:
umbilical hernia
diastasis recti
omphalocele

Head And Neck Mouth:
cleft palate
cleft lip
papillomas (lip, gingiva)

Genitourinary Kidneys:
horseshoe kidney
hydronephrosis

Skeletal:
joint laxity
skeletal asymmetry

Abdomen Gastrointestinal:
intestinal malrotation
hiatus hernia
anteriorly displaced anus
esophageal papillomas

Head And Neck Teeth:
hypodontia
oligodontia
malocclusion
enamel hypoplasia
delayed eruption
more
Skin Nails Hair Hair:
sparse hair
brittle hair
patchy alopecia (head, pubic area)

Skin Nails Hair Skin:
telangiectasia
skin atrophy
linear or reticular hyperpigmentation
localized cutaneous deposits of superficial fat
arborescent papillomas (axillae, periumbilical area, anus, vulva)
more
Genitourinary Ureters:
bifid ureter

Chest Ribs Sternum Clavicles And Scapulae:
midclavicular hypoplasia
rib hypoplasia
midclavicular aplasia

Chest Breasts:
supernumerary nipples
nipple hypoplasia
asymmetric breast

Skin Nails Hair Nails:
absent toenails
absent fingernails
dystrophic nails (spooned, grooves)

Head And Neck Head:
microcephaly, mild

Clinical features from OMIM:

305600

MGI Mouse Phenotypes related to Focal Dermal Hypoplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.62 ALB PORCN PTCH1 WNT3A
2 embryo MP:0005380 9.56 HCCS PORCN PTCH1 WNT3A
3 muscle MP:0005369 9.46 ALB HCCS PTCH1 WNT3A
4 normal MP:0002873 9.35 ALB CD79A HCCS PORCN PTCH1
5 renal/urinary system MP:0005367 9.02 ALB CD79A PORCN PTCH1 WNT3A

Drugs & Therapeutics for Focal Dermal Hypoplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy, Safety and Tolerability of Topically Applied LDE225 Cream (Hedgehog Pathway Inhibitor) in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Withdrawn NCT03070691 Phase 2, Phase 3 LDE225B;Vehicle
2 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2 Vehicle;LDE225 0.25%;LDE225 0.75%
3 Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Completed NCT01350115 Phase 2 LDE225;Placebo
4 Growth Arrest in Focal Dermal Hypoplasia Completed NCT02463656
5 Study of Selected X-linked Disorders: Goltz Syndrome Active, not recruiting NCT00691223

Search NIH Clinical Center for Focal Dermal Hypoplasia

Cochrane evidence based reviews: focal dermal hypoplasia

Genetic Tests for Focal Dermal Hypoplasia

Genetic tests related to Focal Dermal Hypoplasia:

# Genetic test Affiliating Genes
1 Focal Dermal Hypoplasia 30 PORCN

Anatomical Context for Focal Dermal Hypoplasia

MalaCards organs/tissues related to Focal Dermal Hypoplasia:

42
Skin, Bone, Eye, Kidney, Retina, Lung, Breast

Publications for Focal Dermal Hypoplasia

Articles related to Focal Dermal Hypoplasia:

(show top 50) (show all 379)
# Title Authors Year
1
Post-zygotic mosaicism in a woman with Goltz syndrome mimics segmental angioma serpiginosum. ( 30801665 )
2019
2
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia. ( 30022487 )
2019
3
Growth failure in focal dermal hypoplasia. ( 30693654 )
2019
4
A rose is a rose: naevoid manifestations blur the boundary between naevus and classical gene defect in focal dermal hypoplasia. ( 30821393 )
2019
5
Argon Plasma Coagulation as a Treatment of Multiple Esophageal Papillomata in a Girl With Goltz Syndrome. ( 30074578 )
2019
6
Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome - a case report. ( 30736811 )
2019
7
Mesenteric cyst and recurrent abdominal pain in a patient with Gorlin-Goltz syndrome: a case report. ( 30771802 )
2019
8
Gorlin-Goltz Syndrome: A Case Report and Literature Review. ( 30891389 )
2019
9
An enigma of Gorlin-Goltz syndrome: Two cases reported in mother and daughter. ( 30967739 )
2019
10
Gorlin-Goltz syndrome. ( 30995852 )
2019
11
Meningioma associated with Gorlin-Goltz syndrome and a short review of literature. ( 31085890 )
2019
12
Conservative Management of Ovarian Fibroma in A Case of Gorlin-Goltz Syndrome Comorbid with Endometriosis. ( 29334213 )
2018
13
Two female cases of focal dermal hypoplasia: One new case with a novel variant in PORCN (c.808_811delGGGG). ( 28012187 )
2018
14
Esophageal Squamous Cell Papillomatosis Arising in Focal Dermal Hypoplasia in a 3-Year-Old Girl. ( 29373440 )
2018
15
A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report. ( 29525789 )
2018
16
Extensive Mucocutaneous Papillomas in a Case of Focal Dermal Hypoplasia. ( 29854650 )
2018
17
Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review. ( 29867430 )
2018
18
Focal dermal hypoplasia: A novel finding in disguise. ( 29892538 )
2018
19
Gorlin-Goltz syndrome: first reported case of bullae in the lungs complicated with tension pneumothorax. ( 29930167 )
2018
20
Delayed Diagnosis of Gorlin-Goltz Syndrome: The Importance of the Multidisciplinary Approach. ( 29521748 )
2018
21
Effective anti-programmed death-1 therapy in a SUFU-mutated patient with Gorlin-Goltz syndrome. ( 29603722 )
2018
22
A rare association of Gorlin-Goltz syndrome. ( 29766957 )
2018
23
Supraclavicular Dermo-Muscular Agenesis in an Infant With Gorlin-Goltz Syndrome. ( 29894462 )
2018
24
Multiple Odontogenic Cysts and Intracranial Calcification: Gorlin-Goltz Syndrome. ( 30106350 )
2018
25
Gorlin-Goltz syndrome: a case series from north Italy. ( 30129523 )
2018
26
Gorlin-Goltz Syndrome: A Rare Case Report. ( 30166848 )
2018
27
An Update of Gorlin-Goltz Syndrome. ( 30428966 )
2018
28
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature. ( 30455901 )
2018
29
Unusual Neurological Presentation of Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome). ( 28884983 )
2017
30
Confocal and dermoscopic features of basal cell carcinoma in Gorlin-Goltz syndrome: A case report. ( 26768321 )
2017
31
Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment. ( 28951717 )
2017
32
Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia. ( 28025844 )
2017
33
Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis. ( 28405153 )
2017
34
Almost Unilateral Focal Dermal Hypoplasia. ( 28223754 )
2017
35
Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients. ( 28293688 )
2017
36
Focal dermal hypoplasia: inheritance from father to daughter. ( 28397289 )
2017
37
Erratum to Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. ( 28422450 )
2017
38
A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. ( 28626639 )
2017
39
Laser-Induced Neocollagenesis in Focal Dermal Hypoplasia Associated With Goltz Syndrome in a Girl. ( 28975212 )
2017
40
Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India. ( 28979012 )
2017
41
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. ( 27623003 )
2017
42
Effects of photodynamic therapy on dermal fibroblasts from xeroderma pigmentosum and Gorlin-Goltz syndrome patients. ( 29100394 )
2017
43
Teaching NeuroImages: Clinical and neuroimaging features in Gorlin-Goltz syndrome. ( 28193761 )
2017
44
Dental, dermatological and radiographic findings in a case of Gorlin-Goltz Syndrome: report and review. ( 28819517 )
2017
45
Gorlin-Goltz syndrome. ( 29062253 )
2017
46
The relevance of dental surgeon on Gorlin-Goltz syndrome. ( 29806651 )
2017
47
Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant. ( 27904205 )
2016
48
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia. ( 26603014 )
2016
49
Cognitive and psychological functioning in focal dermal hypoplasia. ( 26818018 )
2016
50
Oral phenotype and variation in focal dermal hypoplasia. ( 26843121 )
2016

Variations for Focal Dermal Hypoplasia

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

76 (show all 15)
# Symbol AA change Variation ID SNP ID
1 PORCN p.Gly60Arg VAR_035089 rs267606973
2 PORCN p.Arg365Gly VAR_035090
3 PORCN p.Ser136Phe VAR_058899
4 PORCN p.Gly168Arg VAR_058900
5 PORCN p.Val258Glu VAR_058902
6 PORCN p.His341Leu VAR_058903
7 PORCN p.Arg365Gln VAR_058904
8 PORCN p.Cys385Arg VAR_058905
9 PORCN p.Trp439Arg VAR_058906
10 PORCN p.His252Tyr VAR_065189
11 PORCN p.Ser297Leu VAR_065190
12 PORCN p.Leu331Arg VAR_065191
13 PORCN p.Glu361Val VAR_065192
14 PORCN p.Cys385Tyr VAR_065193
15 PORCN p.Ala374Pro VAR_066061

ClinVar genetic disease variations for Focal Dermal Hypoplasia:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 PORCN NM_203475.2(PORCN): c.1059_1071dupCCTGGCTTTTATC (p.Thr358Profs) duplication Pathogenic rs587776737 GRCh37 Chromosome X, 48374313: 48374325
2 PORCN NM_203475.2(PORCN): c.1059_1071dupCCTGGCTTTTATC (p.Thr358Profs) duplication Pathogenic rs587776737 GRCh38 Chromosome X, 48515925: 48515937
3 PORCN NM_203473.2(PORCN): c.178G> A (p.Gly60Arg) single nucleotide variant Pathogenic rs267606973 GRCh37 Chromosome X, 48369724: 48369724
4 PORCN NM_203473.2(PORCN): c.178G> A (p.Gly60Arg) single nucleotide variant Pathogenic rs267606973 GRCh38 Chromosome X, 48511336: 48511336
5 PORCN NM_203475.2(PORCN): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs137852218 GRCh37 Chromosome X, 48370320: 48370320
6 PORCN NM_203475.2(PORCN): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs137852218 GRCh38 Chromosome X, 48511932: 48511932
7 PORCN NM_203473.2(PORCN): c.222G> A (p.Trp74Ter) single nucleotide variant Pathogenic rs137852219 GRCh37 Chromosome X, 48369768: 48369768
8 PORCN NM_203473.2(PORCN): c.222G> A (p.Trp74Ter) single nucleotide variant Pathogenic rs137852219 GRCh38 Chromosome X, 48511380: 48511380
9 PORCN NM_203473.2(PORCN): c.1094G> A (p.Arg365Gln) single nucleotide variant Pathogenic rs387906723 GRCh37 Chromosome X, 48374470: 48374470
10 PORCN NM_203473.2(PORCN): c.1094G> A (p.Arg365Gln) single nucleotide variant Pathogenic rs387906723 GRCh38 Chromosome X, 48516082: 48516082
11 PORCN NM_203474.1(PORCN): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs1114167283 GRCh38 Chromosome X, 48511426: 48511426
12 PORCN NM_203474.1(PORCN): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs1114167283 GRCh37 Chromosome X, 48369814: 48369814
13 PORCN NM_203475.2(PORCN): c.565T> C (p.Trp189Arg) single nucleotide variant Likely pathogenic rs1057519006 GRCh37 Chromosome X, 48370986: 48370986
14 PORCN NM_203475.2(PORCN): c.565T> C (p.Trp189Arg) single nucleotide variant Likely pathogenic rs1057519006 GRCh38 Chromosome X, 48512598: 48512598
15 PORCN NM_203473.2(PORCN): c.838_839delACinsCCCCCAG (p.Thr280Profs) indel Uncertain significance rs1556974808 GRCh38 Chromosome X, 48514532: 48514533
16 PORCN NM_203473.2(PORCN): c.838_839delACinsCCCCCAG (p.Thr280Profs) indel Uncertain significance rs1556974808 GRCh37 Chromosome X, 48372920: 48372921
17 PORCN NM_203473.2(PORCN): c.1008+2T> A single nucleotide variant Pathogenic rs1556975151 GRCh38 Chromosome X, 48515795: 48515795
18 PORCN NM_203473.2(PORCN): c.1008+2T> A single nucleotide variant Pathogenic rs1556975151 GRCh37 Chromosome X, 48374183: 48374183

Copy number variations for Focal Dermal Hypoplasia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 263165 X 47300000 49700000 Microdeletions PORCN focal dermal hypoplasia

Expression for Focal Dermal Hypoplasia

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

Pathways for Focal Dermal Hypoplasia

Pathways related to Focal Dermal Hypoplasia according to KEGG:

38
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

GO Terms for Focal Dermal Hypoplasia

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

# Name GO ID Score Top Affiliating Genes
1 endocytic vesicle membrane GO:0030666 8.62 PTCH1 WNT3A

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

# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.26 HCCS PTCH1
2 canonical Wnt signaling pathway GO:0060070 9.16 PORCN WNT3A
3 mammary gland development GO:0030879 8.96 PTCH1 WNT3A
4 dorsal/ventral neural tube patterning GO:0021904 8.62 PTCH1 WNT3A

Sources for Focal Dermal Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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