MCID: FCL009
MIFTS: 57

Focal Dermal Hypoplasia

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

Aliases & Classifications for Focal Dermal Hypoplasia

MalaCards integrated aliases for Focal Dermal Hypoplasia:

Name: Focal Dermal Hypoplasia 53 12 72 23 49 24 55 71 36 28 13 41 14 69
Goltz Syndrome 53 12 72 23 49 24 55 71
Goltz-Gorlin Syndrome 53 23 49 24 55 71
Fodh 53 49 71
Dhof 53 49 71
Fdh 53 49 71
Goltz Gorlin Syndrome 49 71
Fodh; Dhof 53

Characteristics:

Orphanet epidemiological data:

55
focal dermal hypoplasia
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
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:

31
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 53 305600
Disease Ontology 12 DOID:2120
MeSH 41 D005489
NCIt 46 C84715
SNOMED-CT 64 205573006 2298005
Orphanet 55 ORPHA2092
MESH via Orphanet 42 D005489
UMLS via Orphanet 70 C0016395
ICD10 via Orphanet 33 Q82.8
MedGen 39 C0016395
KEGG 36 H00949
UMLS 69 C0016395

Summaries for Focal Dermal Hypoplasia

NIH Rare Diseases : 49 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 hyperthyroxinemia, familial dysalbuminemic, and has symptoms including abdominal pain, macule and low-set ears. 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 ligand biogenesis and trafficking. Affiliated tissues include skin, eye and bone, and related phenotypes are digestive/alimentary and craniofacial

Genetics Home Reference : 24 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.

OMIM : 53 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 : 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.

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 81)
# Related Disease Score Top Affiliating Genes
1 basal cell nevus syndrome 33.1 PORCN PTCH1
2 hyperthyroxinemia, familial dysalbuminemic 11.3
3 focal facial dermal dysplasia 11.2
4 angioma serpiginosum, autosomal dominant 11.1
5 osteopathia striata with cranial sclerosis 11.1
6 encephalocraniocutaneous lipomatosis 11.1
7 nevoid hypermelanosis, linear and whorled 10.9
8 cork-handlers' disease 10.3 ALB CD79A
9 ostertagiasis 10.3 ALB CD79A
10 dermatitis, atopic, 3 10.3 ALB CD79A
11 orthostatic proteinuria 10.3 ALB CD79A
12 root caries 10.3 ALB CD79A
13 marasmus 10.3 ALB CD79A
14 parotitis 10.2 ALB CD79A
15 yellow nail syndrome 10.2 ALB CD79A
16 chronic graft versus host disease 10.2 ALB CD79A
17 diffuse glomerulonephritis 10.2 ALB CD79A
18 non-secretory myeloma 10.2 ALB CD79A
19 hypersensitivity reaction type iii disease 10.2 ALB CD79A
20 protein-losing enteropathy 10.2 ALB CD79A
21 ulcerative stomatitis 10.2 ALB CD79A
22 pneumocystosis 10.2 ALB CD79A
23 autoimmune disease of urogenital tract 10.2 ALB CD79A
24 lipoid nephrosis 10.2 ALB CD79A
25 dysentery 10.2 ALB CD79A
26 protein-energy malnutrition 10.2 ALB CD79A
27 meningoencephalitis 10.2 ALB CD79A
28 keratoconjunctivitis sicca 10.2 ALB CD79A
29 membranoproliferative glomerulonephritis 10.2 ALB CD79A
30 guillain-barre syndrome 10.2 ALB CD79A
31 extrinsic allergic alveolitis 10.2 ALB CD79A
32 obstructive jaundice 10.2 ALB CD79A
33 primary bacterial infectious disease 10.2 ALB CD79A
34 membranous nephropathy 10.2 ALB CD79A
35 intestinal disease 10.2 ALB CD79A
36 hypersensitivity reaction disease 10.1 ALB CD79A
37 schistosomiasis 10.1 ALB CD79A
38 acute maxillary sinusitis 10.1 CD79A HCCS
39 bronchitis 10.1 ALB CD79A
40 end stage renal failure 10.1 ALB CD79A
41 papilloma 10.1
42 otitis media 10.1 ALB CD79A
43 basal cell carcinoma 1 10.1
44 basal cell carcinoma 10.1
45 respiratory system disease 10.1 ALB CD79A
46 urinary system disease 10.1 ALB CD79A
47 esophagitis 10.0
48 iga glomerulonephritis 10.0 ALB CD79A
49 acquired immunodeficiency syndrome 10.0 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:

53
Skeletal:
joint laxity
skeletal asymmetry

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

Abdomen Gastroin testinal:
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)

Skeletal Pelvis:
congenital hip dislocation
failure of pubic bone fusion

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
Skeletal Limbs:
osteopathia striata

Chest Breasts:
supernumerary nipples
nipple hypoplasia
asymmetric breast

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

Chest RibsSternum Clavicles And Scapulae:
rib hypoplasia
midclavicular aplasia
midclavicular hypoplasia

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

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

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:
clitoral hypoplasia
labial hypoplasia

Genitourinary Ureters:
bifid ureter

Respiratory Larynx:
papillomatosis

Chest Diaphragm:
diaphragmatic hernia

Skeletal Skull:
asymmetric skull

Head And Neck Head:
microcephaly, mild


Clinical features from OMIM:

305600

Human phenotypes related to Focal Dermal Hypoplasia:

55 31 (show top 50) (show all 131)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002027
2 macule 55 31 hallmark (90%) Very frequent (99-80%) HP:0012733
3 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
4 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
5 finger syndactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0006101
6 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
7 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
8 hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000365
9 corneal opacity 55 31 frequent (33%) Frequent (79-30%) HP:0007957
10 open bite 55 31 frequent (33%) Frequent (79-30%) HP:0010807
11 umbilical hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001537
12 gastroesophageal reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0002020
13 cognitive impairment 55 31 frequent (33%) Frequent (79-30%) HP:0100543
14 subcutaneous nodule 55 31 frequent (33%) Frequent (79-30%) HP:0001482
15 abnormality of the nail 55 31 hallmark (90%) Very frequent (99-80%) HP:0001597
16 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
17 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
18 thin skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000963
19 horseshoe kidney 55 31 frequent (33%) Frequent (79-30%) HP:0000085
20 alopecia 55 31 frequent (33%) Frequent (79-30%) HP:0001596
21 renal hypoplasia/aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008678
22 chorioretinal coloboma 55 31 frequent (33%) Frequent (79-30%) HP:0000567
23 microphthalmia 55 31 frequent (33%) Frequent (79-30%) HP:0000568
24 telangiectasia of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0100585
25 multicystic kidney dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000003
26 ectopia lentis 55 31 frequent (33%) Frequent (79-30%) HP:0001083
27 hypoplasia of the iris 55 31 frequent (33%) Frequent (79-30%) HP:0007676
28 abnormality of dental enamel 55 31 hallmark (90%) Very frequent (99-80%) HP:0000682
29 hand polydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001161
30 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
31 spina bifida 55 31 frequent (33%) Frequent (79-30%) HP:0002414
32 reduced number of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0009804
33 erythema 55 31 frequent (33%) Frequent (79-30%) HP:0010783
34 split hand 55 31 hallmark (90%) Very frequent (99-80%) HP:0001171
35 acute hepatic failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0006554
36 pointed chin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000307
37 abnormality of dental morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0006482
38 hypoplastic pelvis 55 31 frequent (33%) Frequent (79-30%) HP:0008839
39 narrow nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000446
40 iris coloboma 55 31 frequent (33%) Frequent (79-30%) HP:0000612
41 abnormality of skin pigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001000
42 camptodactyly of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0100490
43 facial asymmetry 55 31 frequent (33%) Frequent (79-30%) HP:0000324
44 toe syndactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001770
45 lower limb asymmetry 55 31 hallmark (90%) Very frequent (99-80%) HP:0100559
46 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
47 papilloma 55 31 hallmark (90%) Very frequent (99-80%) HP:0012740
48 aplasia/hypoplasia of the lungs 55 31 occasional (7.5%) Occasional (29-5%) HP:0006703
49 diastasis recti 55 31 frequent (33%) Frequent (79-30%) HP:0001540
50 congenital diaphragmatic hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000776

MGI Mouse Phenotypes related to Focal Dermal Hypoplasia:

43
# 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 OFD1 PORCN PTCH1 WNT3A HCCS
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:


# 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 Active, not 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:

# Genetic test Affiliating Genes
1 Focal Dermal Hypoplasia 28 PORCN

Anatomical Context for Focal Dermal Hypoplasia

MalaCards organs/tissues related to Focal Dermal Hypoplasia:

38
Skin, Eye, Bone, Retina, Kidney, Lung, Uterus

Publications for Focal Dermal Hypoplasia

Articles related to Focal Dermal Hypoplasia:

(show top 50) (show all 197)
# Title Authors Year
1
Esophageal Squamous Cell Papillomatosis Arising in Focal Dermal Hypoplasia in a Three-year-old Girl. ( 29373440 )
2018
2
Almost Unilateral Focal Dermal Hypoplasia. ( 28223754 )
2017
3
A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. ( 28626639 )
2017
4
Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis. ( 28405153 )
2017
5
Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients. ( 28293688 )
2017
6
Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India. ( 28979012 )
2017
7
Focal dermal hypoplasia: inheritance from father to daughter. ( 28397289 )
2017
8
Laser-Induced Neocollagenesis in Focal Dermal Hypoplasia Associated With Goltz Syndrome in a Girl. ( 28975212 )
2017
9
Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome). ( 27001925 )
2016
10
Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. ( 27001926 )
2016
11
Oral phenotype and variation in focal dermal hypoplasia. ( 26843121 )
2016
12
Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia. ( 28025844 )
2016
13
Two female cases of focal dermal hypoplasia: One new case with a novel variant in PORCN (c.808_811delGGGG). ( 28012187 )
2016
14
Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant. ( 27904205 )
2016
15
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. ( 26853229 )
2016
16
Focal Dermal Hypoplasia or Goltz Syndrome: A Rare Association with Keratoconus. ( 26955112 )
2016
17
Cognitive and psychological functioning in focal dermal hypoplasia. ( 26818018 )
2016
18
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. ( 27623003 )
2016
19
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). ( 26858134 )
2016
20
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia. ( 26603014 )
2016
21
Focal dermal hypoplasia: a rare case report. ( 25657436 )
2015
22
Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin. ( 25640089 )
2015
23
Severe abdominal wall defect leading to dehiscence in focal dermal hypoplasia (Goltz syndrome). ( 25751343 )
2015
24
Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis. ( 25451153 )
2015
25
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
26
Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia. ( 26078738 )
2015
27
DETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA. ( 26349189 )
2015
28
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
29
Focal dermal hypoplasia: updates. ( 23463902 )
2014
30
Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia. ( 24698628 )
2014
31
Focal dermal hypoplasia without focal dermal hypoplasia. ( 24357603 )
2013
32
Cutaneous atrophic guttate lesions in a linear and reticulate pattern: a quiz. Diagnosis: Focal dermal hypoplasia (Goltz syndrome). ( 22688728 )
2013
33
Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients. ( 23399492 )
2013
34
A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene. ( 22735390 )
2013
35
A case report of focal dermal hypoplasia-Goltz syndrome. ( 23984248 )
2013
36
Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome. ( 23131169 )
2013
37
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
38
Zygotic porcn paternal allele deletion in mice to model human focal dermal hypoplasia. ( 24223895 )
2013
39
Treatment of recalcitrant excessive granulation tissue with photodynamic therapy in an eight-year-old patient with focal dermal hypoplasia syndrome. ( 21995324 )
2012
40
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. ( 22250236 )
2012
41
Spontaneous patella fracture presenting as osteomyelitis in focal dermal hypoplasia. ( 22000280 )
2012
42
Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). ( 22412863 )
2012
43
Esophageal papillomas and skin abnormalities. Focal dermal hypoplasia (Goltz syndrome) manifesting with esophageal papillomatosis. ( 21272558 )
2011
44
Focal dermal hypoplasia with uterus bicornis and renal ectopia: case report and review of the literature. ( 21941481 )
2011
45
Focal dermal hypoplasia in a male. ( 25386262 )
2011
46
A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient. ( 21332693 )
2011
47
Focal dermal hypoplasia: a case report and literature review. ( 21684779 )
2011
48
Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion. ( 20626533 )
2011
49
Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. ( 21768372 )
2011
50
Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype. ( 21133992 )
2011

Variations for Focal Dermal Hypoplasia

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

71 (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
# 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 GRCh38 Chromosome X, 48512598: 48512598

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:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

# 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:

# 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 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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