MCID: FCL009
MIFTS: 56

Focal Dermal Hypoplasia

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

Aliases & Classifications for Focal Dermal Hypoplasia

MalaCards integrated aliases for Focal Dermal Hypoplasia:

Name: Focal Dermal Hypoplasia 54 12 23 50 24 25 56 71 29 13 42 14 69
Goltz Syndrome 12 23 50 24 25 56 71
Goltz-Gorlin Syndrome 23 50 24 25 56 71
Fodh 50 24 71
Fdh 50 24 71
Goltz Gorlin Syndrome 50 71
Dhof 50 71

Characteristics:

Orphanet epidemiological data:

56
focal dermal hypoplasia
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
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:

32
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:

OMIM 54 305600
Disease Ontology 12 DOID:2120
MeSH 42 D005489
NCIt 47 C84715
SNOMED-CT 64 205573006 2298005
Orphanet 56 ORPHA2092
MESH via Orphanet 43 D005489
UMLS via Orphanet 70 C0016395
ICD10 via Orphanet 34 Q82.8
MedGen 40 C0016395
UMLS 69 C0016395

Summaries for Focal Dermal Hypoplasia

NIH Rare Diseases : 50 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 angioma serpiginosum, autosomal dominant, and has symptoms including scoliosis, strabismus and umbilical hernia. An important gene associated with Focal Dermal Hypoplasia is PORCN (Porcupine O-Acyltransferase), and among its related pathways/superpathways is WNT ligand biogenesis and trafficking. Affiliated tissues include skin, eye and bone, and related phenotypes are digestive/alimentary and craniofacial

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

Wikipedia : 72 Focal dermal hypoplasia (also known as \"Goltz syndrome\") is a form of ectodermal dysplasia. It is a... 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 77)
id Related Disease Score Top Affiliating Genes
1 basal cell nevus syndrome 33.1 PORCN PTCH1
2 angioma serpiginosum, autosomal dominant 10.9
3 encephalocraniocutaneous lipomatosis 10.9
4 osteopathia striata with cranial sclerosis 10.9
5 nevoid hypermelanosis, linear and whorled 10.8
6 atopic dermatitis 5 10.4 ALB CD79A
7 microinvasive cervical squamous cell carcinoma 10.4 ALB CD79A
8 ovary transitional cell carcinoma 10.4 ALB CD79A
9 non-congenital cyst of kidney 10.4 ALB CD79A
10 infertility due to extratesticular cause 10.4 ALB CD79A
11 male genital organ stricture 10.4 ALB CD79A
12 adie pupil 10.4 ALB CD79A
13 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids 10.4 ALB CD79A
14 immune-complex glomerulonephritis 10.4 ALB CD79A
15 adrenal gland disease 10.4 ALB CD79A
16 acute gonococcal cervicitis 10.4 ALB CD79A
17 dermatomycosis 10.4 ALB CD79A
18 pyrimidine metabolic disorder 10.4 ALB CD79A
19 toxic myocarditis 10.4 ALB CD79A
20 bladder diverticulum 10.4 ALB CD79A
21 autoimmune disease of cardiovascular system 10.4 ALB CD79A
22 spastic monoplegia 10.4 ALB CD79A
23 spastic entropion 10.4 ALB CD79A
24 bladder sarcoma 10.4 ALB CD79A
25 aleutian mink disease 10.4 ALB CD79A
26 late yaws 10.4 ALB CD79A
27 mikulicz disease 10.3 ALB CD79A
28 choreatic disease 10.3 ALB CD79A
29 carcinoma arising in nasal papillomatosis 10.3 ALB CD79A
30 paranasal sinus sarcoma 10.3 ALB CD79A
31 opportunistic bacterial infectious disease 10.3 ALB CD79A
32 prostate neuroendocrine neoplasm 10.3 ALB CD79A
33 nasopharyngeal carcinoma 2 10.3 ALB CD79A
34 endometrial clear cell adenocarcinoma 10.3 ALB CD79A
35 lymphoma 10.3 ALB CD79A
36 uterus interstitial leiomyoma 10.2 ALB CD79A
37 chronic mucocutaneous candidiasis 10.2 CD79A HCCS
38 nasal cavity carcinoma in situ 10.2 ALB CD79A
39 exocrine pancreatic insufficiency 10.2 ALB CD79A
40 premature ovarian failure 12 10.2 ALB CD79A
41 acute chest syndrome 10.2 ALB CD79A
42 calcinosis 10.1 ALB CD79A
43 acral lentiginous melanoma 10.1 ALB CD79A
44 lacrimal system cancer 10.1 ALB CD79A
45 papilloma 10.0
46 basal cell carcinoma 10.0
47 scleral disease 10.0 ALB CD79A
48 prostate cancer, progression and metastasis of 10.0 ALB CD79A
49 fg syndrome 5 9.9 ALB CD79A
50 hydrocephalus 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

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
optic atrophy
nystagmus
strabismus
decreased visual acuity
iris coloboma
more
Abdomen- External Features:
umbilical hernia
omphalocele
diastasis recti

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

Skin Nails & Hair- Skin:
skin atrophy
telangiectasia
linear or reticular hyperpigmentation
localized cutaneous deposits of superficial fat
arborescent papillomas (axillae, periumbilical area, anus, vulva)
more
Head And Neck- Mouth:
cleft palate
cleft lip
papillomas (lip, gingiva)

Genitourinary- Internal Genitalia Male:
cryptorchidism

Genitourinary- External Genitalia Male:
inguinal hernia

Head And Neck- Face:
pointed chin
facial asymmetry

Skeletal- Feet:
syndactyly
missing toes
ectrodactyly
polydactyly
hypoplastic digits
more
Abdomen- Gastroin testinal:
intestinal malrotation
hiatus hernia
anteriorly displaced anus
esophageal papillomas

Skeletal- Pelvis:
congenital hip dislocation
failure of pubic bone fusion

Skeletal- Skull:
asymmetric skull

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

Skeletal- Limbs:
osteopathia striata

Skeletal- Spine:
scoliosis
spina bifida occulta

Respiratory- Larynx:
papillomatosis

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

Skeletal:
joint laxity
skeletal asymmetry

Skin Nails & Hair- Hair:
brittle hair
sparse hair
patchy alopecia (head, pubic area)

Genitourinary- Kidneys:
hydronephrosis
horseshoe kidney

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

Head And Neck- Teeth:
malocclusion
hypodontia
enamel hypoplasia
oligodontia
delayed eruption
more
Head And Neck- Head:
microcephaly, mild

Genitourinary- Ureters:
bifid ureter

Skeletal- Hands:
postaxial polydactyly
short phalanges
ectrodactyly
short metacarpal
syndactyly (75%)
more
Chest- Diaphragm:
diaphragmatic hernia

Chest- Breasts:
nipple hypoplasia
supernumerary nipples
asymmetric breast

Genitourinary- External Genitalia Female:
labial hypoplasia
clitoral hypoplasia

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


Clinical features from OMIM:

305600

Human phenotypes related to Focal Dermal Hypoplasia:

56 32 (show top 50) (show all 131)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
2 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
3 umbilical hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001537
4 cognitive impairment 56 32 frequent (33%) Frequent (79-30%) HP:0100543
5 low-set ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000369
6 alopecia 56 32 frequent (33%) Frequent (79-30%) HP:0001596
7 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
8 microphthalmia 56 32 frequent (33%) Frequent (79-30%) HP:0000568
9 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
10 short ribs 56 32 frequent (33%) Frequent (79-30%) HP:0000773
11 gastroesophageal reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0002020
12 thin skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000963
13 iris coloboma 56 32 frequent (33%) Frequent (79-30%) HP:0000612
14 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
15 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
16 omphalocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0001539
17 horseshoe kidney 56 32 frequent (33%) Frequent (79-30%) HP:0000085
18 spina bifida 56 32 frequent (33%) Frequent (79-30%) HP:0002414
19 pointed chin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000307
20 finger syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0006101
21 toe syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001770
22 abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002027
23 duodenal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002247
24 diastasis recti 56 32 frequent (33%) Frequent (79-30%) HP:0001540
25 facial asymmetry 56 32 frequent (33%) Frequent (79-30%) HP:0000324
26 acute hepatic failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0006554
27 ectopia lentis 56 32 frequent (33%) Frequent (79-30%) HP:0001083
28 hypoplasia of the iris 56 32 frequent (33%) Frequent (79-30%) HP:0007676
29 erythema 56 32 frequent (33%) Frequent (79-30%) HP:0010783
30 split foot 56 32 hallmark (90%) Very frequent (99-80%) HP:0001839
31 short clavicles 56 32 frequent (33%) Frequent (79-30%) HP:0000894
32 congenital diaphragmatic hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000776
33 corneal opacity 56 32 frequent (33%) Frequent (79-30%) HP:0007957
34 hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000365
35 narrow nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000446
36 open bite 56 32 frequent (33%) Frequent (79-30%) HP:0010807
37 chorioretinal coloboma 56 32 frequent (33%) Frequent (79-30%) HP:0000567
38 split hand 56 32 hallmark (90%) Very frequent (99-80%) HP:0001171
39 renal hypoplasia/aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008678
40 lower limb asymmetry 56 32 hallmark (90%) Very frequent (99-80%) HP:0100559
41 hypoplastic pelvis 56 32 frequent (33%) Frequent (79-30%) HP:0008839
42 abnormality of epiphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005930
43 subcutaneous nodule 56 32 frequent (33%) Frequent (79-30%) HP:0001482
44 abnormality of the nail 56 32 hallmark (90%) Very frequent (99-80%) HP:0001597
45 multicystic kidney dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0000003
46 abnormality of dental enamel 56 32 hallmark (90%) Very frequent (99-80%) HP:0000682
47 hand polydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001161
48 reduced number of teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0009804
49 macule 56 32 hallmark (90%) Very frequent (99-80%) HP:0012733
50 abnormality of dental morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0006482

UMLS symptoms related to Focal Dermal Hypoplasia:


joint laxity

MGI Mouse Phenotypes related to Focal Dermal Hypoplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.72 ALB OFD1 PORCN PTCH1 WNT3A
2 craniofacial MP:0005382 9.67 OFD1 PORCN PTCH1 WNT3A
3 embryo MP:0005380 9.65 HCCS OFD1 PORCN PTCH1 WNT3A
4 limbs/digits/tail MP:0005371 9.46 OFD1 PORCN PTCH1 WNT3A
5 normal MP:0002873 9.35 ALB CD79A HCCS PORCN PTCH1
6 renal/urinary system MP:0005367 9.1 ALB CD79A OFD1 PORCN PTCH1 WNT3A

Drugs & Therapeutics for Focal Dermal Hypoplasia

Interventional clinical trials:


id 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 Study of Selected X-linked Disorders: Goltz Syndrome Recruiting NCT00691223
5 Growth Arrest in Focal Dermal Hypoplasia Active, not recruiting NCT02463656

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:

id Genetic test Affiliating Genes
1 Focal Dermal Hypoplasia 29 24 PORCN

Anatomical Context for Focal Dermal Hypoplasia

MalaCards organs/tissues related to Focal Dermal Hypoplasia:

39
Skin, Eye, Bone, Retina, Kidney, Lung, Breast

Publications for Focal Dermal Hypoplasia

Articles related to Focal Dermal Hypoplasia:

(show top 50) (show all 194)
id Title Authors Year
1
Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients. ( 28293688 )
2017
2
Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis. ( 28405153 )
2017
3
Almost Unilateral Focal Dermal Hypoplasia. ( 28223754 )
2017
4
Focal dermal hypoplasia: inheritance from father to daughter. ( 28397289 )
2017
5
A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. ( 28626639 )
2017
6
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). ( 26858134 )
2016
7
Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant. ( 27904205 )
2016
8
Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome). ( 27001925 )
2016
9
Two female cases of focal dermal hypoplasia: One new case with a novel variant in PORCN (c.808_811delGGGG). ( 28012187 )
2016
10
Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. ( 27001926 )
2016
11
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia. ( 26603014 )
2016
12
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. ( 27623003 )
2016
13
Focal Dermal Hypoplasia or Goltz Syndrome: A Rare Association with Keratoconus. ( 26955112 )
2016
14
Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia. ( 28025844 )
2016
15
Oral phenotype and variation in focal dermal hypoplasia. ( 26843121 )
2016
16
Cognitive and psychological functioning in focal dermal hypoplasia. ( 26818018 )
2016
17
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. ( 26853229 )
2016
18
Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin. ( 25640089 )
2015
19
Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis. ( 25451153 )
2015
20
Severe abdominal wall defect leading to dehiscence in focal dermal hypoplasia (Goltz syndrome). ( 25751343 )
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
Focal dermal hypoplasia: a rare case report. ( 25657436 )
2015
23
DETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA. ( 26349189 )
2015
24
Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia. ( 26078738 )
2015
25
Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia. ( 24698628 )
2014
26
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
27
Focal dermal hypoplasia: updates. ( 23463902 )
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
Cutaneous atrophic guttate lesions in a linear and reticulate pattern: a quiz. Diagnosis: Focal dermal hypoplasia (Goltz syndrome). ( 22688728 )
2013
30
Focal dermal hypoplasia without focal dermal hypoplasia. ( 24357603 )
2013
31
Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome. ( 23131169 )
2013
32
Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients. ( 23399492 )
2013
33
A case report of focal dermal hypoplasia-Goltz syndrome. ( 23984248 )
2013
34
A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene. ( 22735390 )
2013
35
Zygotic porcn paternal allele deletion in mice to model human focal dermal hypoplasia. ( 24223895 )
2013
36
Spontaneous patella fracture presenting as osteomyelitis in focal dermal hypoplasia. ( 22000280 )
2012
37
Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). ( 22412863 )
2012
38
Treatment of recalcitrant excessive granulation tissue with photodynamic therapy in an eight-year-old patient with focal dermal hypoplasia syndrome. ( 21995324 )
2012
39
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. ( 22250236 )
2012
40
Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. ( 21768372 )
2011
41
Epilepsy in a patient with focal dermal hypoplasia. ( 21215914 )
2011
42
Focal dermal hypoplasia in a male. ( 25386262 )
2011
43
Esophageal papillomas and skin abnormalities. Focal dermal hypoplasia (Goltz syndrome) manifesting with esophageal papillomatosis. ( 21272558 )
2011
44
A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient. ( 21332693 )
2011
45
Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion. ( 20626533 )
2011
46
Focal dermal hypoplasia: a case report and literature review. ( 21684779 )
2011
47
Focal dermal hypoplasia with uterus bicornis and renal ectopia: case report and review of the literature. ( 21941481 )
2011
48
Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype. ( 21133992 )
2011
49
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth. ( 20704476 )
2010
50
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. ( 20854095 )
2010

Variations for Focal Dermal Hypoplasia

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

71 (show all 15)
id 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
id 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_203473.2(PORCN): c.178G> A (p.Gly60Arg) single nucleotide variant Pathogenic rs267606973 GRCh37 Chromosome X, 48369724: 48369724
3 PORCN NM_203473.2(PORCN): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs137852218 GRCh37 Chromosome X, 48370320: 48370320
4 PORCN NM_203473.2(PORCN): c.222G> A (p.Trp74Ter) single nucleotide variant Pathogenic rs137852219 GRCh37 Chromosome X, 48369768: 48369768
5 PORCN NM_203473.2(PORCN): c.1094G> A (p.Arg365Gln) single nucleotide variant Pathogenic rs387906723 GRCh37 Chromosome X, 48374470: 48374470
6 PORCN NM_203474.1(PORCN): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs1114167283 GRCh37 Chromosome X, 48369814: 48369814
7 PORCN NM_203475.2(PORCN): c.565T> C (p.Trp189Arg) single nucleotide variant Likely pathogenic rs1057519006 GRCh37 Chromosome X, 48370986: 48370986

Copy number variations for Focal Dermal Hypoplasia from CNVD:

7
id 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.36 PORCN WNT3A

GO Terms for Focal Dermal Hypoplasia

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 canonical Wnt signaling pathway GO:0060070 9.16 PORCN WNT3A
2 mammary gland development GO:0030879 8.96 PTCH1 WNT3A
3 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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