FDH
MCID: FCL009
MIFTS: 65

Focal Dermal Hypoplasia (FDH)

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

Aliases & Classifications for Focal Dermal Hypoplasia

MalaCards integrated aliases for Focal Dermal Hypoplasia:

Name: Focal Dermal Hypoplasia 56 12 74 24 52 25 58 73 36 29 13 6 43 15 71
Goltz Syndrome 56 12 74 24 52 25 58 73
Goltz-Gorlin Syndrome 56 24 52 25 58 73
Fodh 56 52 73
Dhof 56 52 73
Fdh 56 52 73
Goltz Gorlin Syndrome 52 73
Hypoplasia, Dermal, Focal 39
Fodh; Dhof 56

Characteristics:

Orphanet epidemiological data:

58
focal dermal hypoplasia
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
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:

24
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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Focal Dermal Hypoplasia

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. People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), small clusters of veins on the surface of the skin (telangiectases), and streaks of slightly darker or lighter skin. These skin changes may cause pain, itching, irritation, or lead to skin infections. Wart-like growths called papillomas are usually not present at birth but develop with age. Papillomas typically form around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Papillomas can usually be surgically removed if necessary. Affected individuals may have small, ridged fingernails and toenails. Hair on the scalp can be sparse and brittle or absent. Many individuals with focal dermal hypoplasia have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, that do not cause any symptoms in people with focal dermal hypoplasia. Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Affected individuals may also have incomplete development of the light-sensitive tissue at the back of the eye (retina) or the nerve that relays visual information from the eye to the brain (optic nerve). This abnormal development of the retina and optic nerve can result in a gap or split in these structures, which is called a coloboma. Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness. People with focal dermal hypoplasia may have distinctive facial features. Affected individuals often have 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). These facial characteristics are typically very subtle. An opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) may also be present. About half of individuals with focal dermal hypoplasia have abnormalities of their teeth, especially the hard, white material that forms the protective outer layer of each tooth (enamel). Less commonly, abnormalities of the kidneys and gastrointestinal system are present. The kidneys may be fused together, which predisposes affected individuals to kidney infections but does not typically cause significant health problems. The main gastrointestinal abnormality that occurs in people with focal dermal hypoplasia is an omphalocele, which is an opening in the wall of the abdomen that allows the abdominal organs to protrude through the navel. The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have skin abnormalities.

MalaCards based summary : Focal Dermal Hypoplasia, also known as goltz syndrome, is related to chromosome 2q35 duplication syndrome and basal cell carcinoma, multiple. An important gene associated with Focal Dermal Hypoplasia is PORCN (Porcupine O-Acyltransferase), and among its related pathways/superpathways are Wnt signaling pathway and Signaling by GPCR. The drugs Aminolevulinic acid and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and kidney, 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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Focal dermal hypoplasia, also known as Goltz-Gorlin syndrome, is a rare X-linked dominant disorder characterized by patchy dermal hypoplasia and fat herniation through skin in combination with skeletal, ocular and dental abnormalities. Skeletal dysplasia consisting of syndactyly, polydactyly, camptodactyly or ectrodactyly and ocular anomalies such as colobomas, microphthalmia or cataract are frequently reported. Mutations in the PORCN gene has been shown to cause the disease.

UniProtKB/Swiss-Prot : 73 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 : 74 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 260)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 31.3 SHH PTCH1 PORCN
2 basal cell carcinoma, multiple 30.9 PTCH2 PTCH1
3 orbital cyst 30.6 PORCN HCCS
4 keratocystic odontogenic tumor 30.6 SUFU SHH PTCH1
5 microphthalmia 30.5 WNT3A SHH PTCH1 PORCN HCCS
6 meningioma, familial 29.9 SUFU SHH PTCH2 PTCH1
7 basal cell nevus syndrome 29.6 SUFU SHH PTCH2 PTCH1 PORCN
8 neural tube defects 29.5 WNT5A WNT3A SUFU SHH PTCH1
9 cleft palate, isolated 29.2 WNT5A WNT3A WNT3 SHH PTCH1
10 medulloblastoma 28.7 WNT5A WNT3 SUFU SHH PTCH2 PTCH1
11 orofacial cleft 28.7 WNT5A WNT3 SHH PTCH1 AXIN2
12 basal cell carcinoma 27.8 WNT5A WNT3A WNT3 SUFU SHH PTCH2
13 focal facial dermal dysplasia 11.5
14 ectodermal dysplasia, trichoodontoonychial type 11.3
15 osteopathia striata with cranial sclerosis 11.3
16 encephalocraniocutaneous lipomatosis 11.3
17 nevoid hypermelanosis, linear and whorled 11.3
18 hyperthyroxinemia, familial dysalbuminemic 11.3
19 hyperthyroxinemia 10.5
20 goiter 10.5
21 chronic graft versus host disease 10.5 CD79A ALB
22 glomerular disease 10.5 CD79A ALB
23 cefaclor allergy 10.5 HCCS ALB
24 papilloma 10.4
25 midline interhemispheric variant of holoprosencephaly 10.4 SHH PTCH1
26 septopreoptic holoprosencephaly 10.4 SHH PTCH1
27 micronodular basal cell carcinoma 10.4 SHH PTCH1
28 cerebellar medulloblastoma 10.4 SHH PTCH1
29 holoprosencephaly 5 10.4 SHH PTCH1
30 root caries 10.4 CD79A ALB
31 alopecia 10.4
32 angular cheilitis 10.4 MBTPS2 ALB
33 spinal cord lymphoma 10.4 HCCS CD79A
34 cerebellum cancer 10.4 SHH PTCH1
35 coloboma of macula 10.3
36 squamous cell papilloma 10.3
37 erythrokeratoderma ''en cocardes'' 10.3
38 thoracoabdominal syndrome 10.3
39 hypertelorism 10.3
40 ovary leiomyosarcoma 10.3 SUFU PTCH1
41 tinea capitis 10.3 PTCH1 MBTPS2
42 holoprosencephaly 2 10.3 SHH PTCH1
43 alobar holoprosencephaly 10.3 SHH PTCH1
44 fryns microphthalmia syndrome 10.3
45 nodular basal cell carcinoma 10.3 WNT3 PTCH1
46 lobar holoprosencephaly 10.3 SHH PTCH1
47 parotitis 10.3 CD79A ALB
48 medullomyoblastoma 10.3 SUFU SHH
49 calciphylaxis 10.3 CD79A ALB
50 telangiectasis 10.3

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:

58 31 (show top 50) (show all 129)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
2 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
3 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
4 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
5 abnormality of the nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001597
6 macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0012733
7 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
8 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
9 abnormality of skin pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001000
10 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
11 hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001161
12 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
13 split hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001171
14 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
15 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
16 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
17 lower limb asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0100559
18 papilloma 58 31 hallmark (90%) Very frequent (99-80%) HP:0012740
19 abnormality of the middle ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000370
20 abnormal palmar dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0001018
21 rough bone trabeculation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100670
22 upper limb asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0100560
23 split foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001839
24 dermal atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0004334
25 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
26 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
27 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
28 horseshoe kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000085
29 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
30 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
31 subcutaneous nodule 58 31 frequent (33%) Frequent (79-30%) HP:0001482
32 erythema 58 31 frequent (33%) Frequent (79-30%) HP:0010783
33 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
34 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
35 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
36 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
37 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
38 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
39 ectopia lentis 58 31 frequent (33%) Frequent (79-30%) HP:0001083
40 hypoplasia of the iris 58 31 frequent (33%) Frequent (79-30%) HP:0007676
41 spina bifida 58 31 frequent (33%) Frequent (79-30%) HP:0002414
42 hypoplastic pelvis 58 31 frequent (33%) Frequent (79-30%) HP:0008839
43 diastasis recti 58 31 frequent (33%) Frequent (79-30%) HP:0001540
44 short clavicles 58 31 frequent (33%) Frequent (79-30%) HP:0000894
45 short ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000773
46 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
47 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
48 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
49 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
50 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
hearing loss, mixed
protruding, simple ears
narrow auditory canals

Skeletal Spine:
scoliosis
spina bifida occulta

Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Genitourinary Kidneys:
horseshoe kidney
hydronephrosis

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

Skeletal Pelvis:
congenital hip dislocation
failure of pubic bone fusion

Genitourinary External Genitalia Female:
labial hypoplasia
clitoral hypoplasia

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

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
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%)

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Hands:
short metacarpal
ectrodactyly
postaxial polydactyly
short phalanges
syndactyly (75%)
more
Head And Neck Nose:
narrow nasal bridge
broad nasal tip
notched nasal alae

Skeletal:
joint laxity
skeletal asymmetry

Head And Neck Face:
facial asymmetry
pointed chin

Head And Neck Teeth:
hypodontia
oligodontia
malocclusion
enamel hypoplasia
delayed eruption
more
Skeletal Feet:
ectrodactyly
syndactyly
short metatarsal
polydactyly
missing toes
more
Genitourinary Ureters:
bifid ureter

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

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:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.32 ALB AXIN2 CD79A GPR107 HCCS NOTUM
2 cellular MP:0005384 10.3 ALB AXIN2 CD79A GPR107 HCCS NOTUM
3 growth/size/body region MP:0005378 10.29 AXIN2 GPR107 HCCS NOTUM PORCN PTCH1
4 embryo MP:0005380 10.26 AXIN2 GPR107 HCCS PORCN PTCH1 SHH
5 digestive/alimentary MP:0005381 10.24 ALB AXIN2 PORCN PTCH1 PTCH2 SHH
6 cardiovascular system MP:0005385 10.22 ALB AXIN2 HCCS PTCH1 PTCH2 SHH
7 craniofacial MP:0005382 10.2 AXIN2 NOTUM PORCN PTCH1 SHH SUFU
8 limbs/digits/tail MP:0005371 10.19 AXIN2 NOTUM PORCN PTCH1 SHH SUFU
9 nervous system MP:0003631 10.14 AXIN2 CD79A NOTUM PORCN PTCH1 PTCH2
10 muscle MP:0005369 10.11 ALB HCCS NOTUM PTCH1 PTCH2 SHH
11 normal MP:0002873 10.06 ALB AXIN2 CD79A HCCS PORCN PTCH1
12 neoplasm MP:0002006 9.91 ALB CD79A PTCH1 PTCH2 SHH SUFU
13 no phenotypic analysis MP:0003012 9.91 AXIN2 CD79A PTCH1 SHH SUFU WNT3
14 renal/urinary system MP:0005367 9.91 ALB CD79A NOTUM PORCN PTCH1 PTCH2
15 reproductive system MP:0005389 9.81 AXIN2 NOTUM PORCN PTCH1 PTCH2 SHH
16 respiratory system MP:0005388 9.5 NOTUM PTCH1 SHH SUFU WLS WNT3A
17 skeleton MP:0005390 9.28 AXIN2 NOTUM PORCN PTCH1 SHH SUFU

Drugs & Therapeutics for Focal Dermal Hypoplasia

Drugs for Focal Dermal Hypoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminolevulinic acid Approved Phase 1 106-60-5 137
2
Ergocalciferol Approved, Nutraceutical Phase 1 50-14-6 5280793
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1 1406-16-2
4
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
5
Vitamin D3 Approved, Nutraceutical Phase 1 67-97-0 6221 5280795
6 Micronutrients Phase 1
7 Vitamins Phase 1
8 Trace Elements Phase 1
9 Nutrients Phase 1
10 Vitamin D2 Phase 1
11 Ergocalciferols Phase 1
12 Calcium, Dietary Phase 1
13 Calciferol Phase 1
14 Hormones Phase 1
15 Dermatologic Agents
16 Pharmaceutical Solutions
17 Photosensitizing Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Vehicle-controlled, Multicenter Trial of Topically Administered LDE225 Cream (0.75% Bid) to Evaluate Clearance of Basal Cell Carcinoma in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome Withdrawn NCT03070691 Phase 2, Phase 3 LDE225B;Vehicle
2 A Phase II, Double-blind, Randomized, Proof-of-Concept, Dose-ranging Trial Evaluating the Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Adult Patients With Nevoid Basal Cell Carcinoma Syndrome Completed NCT01350115 Phase 2 LDE225;Placebo
3 A Double-blind, Randomized, Vehicle-controlled Proof of Concept (PoC) Study to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of Multiple Topical Administrations of LDE225 (a Specific Smoothened Inhibitor) on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Followed by an Open Label, Randomized Expansion Group to Test Two Different Strengths of an Improved LDE225 Formulation for Extended Treatment Durations Completed NCT00961896 Phase 2 Vehicle;LDE225 0.25%;LDE225 0.75%
4 Vitamin D as a Nutritional Neoadjuvant During Photodynamic Therapy of Basal Cell Carcinoma in Basal Cell Nevus Syndrome Recruiting NCT03483441 Phase 1 PDT
5 Growth Arrest in Focal Dermal Hypoplasia Completed NCT02463656
6 Pilot Trial Comparing Two Different Wavelengths of Light (Blue Versus Red) During Levulan™-Based Photodynamic Therapy of Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Completed NCT02157623 Levulan
7 Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome Recruiting NCT00697411
8 Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders 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 29 PORCN

Anatomical Context for Focal Dermal Hypoplasia

MalaCards organs/tissues related to Focal Dermal Hypoplasia:

40
Skin, Bone, Kidney, Eye, Retina, Brain, Lung

Publications for Focal Dermal Hypoplasia

Articles related to Focal Dermal Hypoplasia:

(show top 50) (show all 657)
# Title Authors PMID Year
1
Novel PORCN mutations in focal dermal hypoplasia. 61 24 56 6
19863546 2009
2
PORCN mutations in focal dermal hypoplasia: coping with lethality. 61 24 56 6
19309688 2009
3
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. 61 24 56 6
17546030 2007
4
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. 61 24 56 6
17546031 2007
5
Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. 61 56 6
18325042 2008
6
Cognitive and psychological functioning in focal dermal hypoplasia. 61 24 56
26818018 2016
7
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. 61 24 56
19586929 2009
8
Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution. 61 24 56
12116212 2002
9
Focal dermal hypoplasia syndrome. An update. 61 24 56
1497368 1992
10
New multiple congenital anomalies syndrome in a stillborn infant of consanguinous parents and a prediabetic pregnancy. 61 24 56
2063890 1991
11
Focal dermal hypoplasia in a father and daughter. 61 24 56
7217396 1981
12
Focal dermal hypoplasia syndrome. A review of the literature and report of two cases. 61 24 56
5416790 1970
13
FOCAL DERMAL HYPOPLASIA SYNDROME. 61 24 56
14051108 1963
14
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. 24 56
21484999 2011
15
International research symposium on Goltz syndrome. 61 56
26834080 2016
16
Aplasia cutis congenita associated with Goltz syndrome in a male neonate. 61 56
20420028 2010
17
Focal Dermal Hypoplasia 61 6
20301712 2008
18
Atypical facial clefting in a patient with Goltz syndrome. 61 56
16761285 2006
19
Truncus arteriosus and other lethal internal anomalies in Goltz syndrome. 61 56
10602117 2000
20
Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx. 61 56
10586128 1999
21
Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko. 61 56
10398252 1999
22
Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome. 61 56
9220199 1997
23
Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition. 61 56
8882775 1996
24
Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome). 61 56
7639315 1995
25
Focal dermal hypoplasia (Goltz syndrome): an adult case with multisystemic involvement. 61 56
8425976 1993
26
Focal dermal hypoplasia syndrome in a male patient. Report of a case and histologic and immunohistochemical studies. 61 56
1497362 1992
27
Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism. 61 56
1951439 1991
28
Focal dermal hypoplasia (Goltz syndrome). 61 56
2325092 1990
29
Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter? 61 56
2541064 1989
30
X-linked dominant inherited diseases with lethality in hemizygous males. 61 56
6873941 1983
31
Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome). 61 56
477680 1979
32
Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism? 61 56
843447 1977
33
Focal dermal hypoplasia (Goltz syndrome) in a male. A case report. 61 56
1273724 1976
34
Letter: Striated osteopathy in focal dermal hypoplasia. 61 56
1190805 1975
35
Focal dermal hypoplasia symdrome in a male. 61 56
1126054 1975
36
Focal dermal hypoplasia. 61 56
4426129 1974
37
Focal dermal hypoplasia. Ocular and general manifestations with a survey of the literature. 61 56
4990274 1970
38
Goltz's syndrome: focal dermal hypoplasia. A combined mesoectodermal dysplasia. 61 56
4292216 1967
39
Focal dermal hypoplasia. 61 56
13948891 1962
40
Revisiting histopathologic findings in Goltz syndrome. 61 24
26956940 2016
41
The orthopedic characterization of Goltz syndrome. 61 24
26867035 2016
42
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). 61 24
26858134 2016
43
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. 61 24
26853229 2016
44
Oral phenotype and variation in focal dermal hypoplasia. 61 24
26843121 2016
45
Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome). 61 24
27001925 2016
46
Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. 61 24
27001926 2016
47
Gynecologic findings in Goltz syndrome: A case series. 61 24
27001927 2016
48
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. 61 24
25026905 2015
49
Successful treatment of diffuse esophageal papillomatosis with balloon-assisted radiofrequency ablation in a patient with Goltz syndrome. 61 24
25314164 2014
50
Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome. 61 24
23131169 2013

Variations for Focal Dermal Hypoplasia

ClinVar genetic disease variations for Focal Dermal Hypoplasia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PORCN NM_203473.3(PORCN):c.222G>A (p.Trp74Ter)SNV Pathogenic 10703 rs137852219 X:48369768-48369768 X:48511380-48511380
2 PORCN NM_203473.3(PORCN):c.1044_1056dup (p.Thr353fs)duplication Pathogenic 10700 rs587776737 X:48374310-48374311 X:48515922-48515923
3 PORCN NM_203473.3(PORCN):c.178G>A (p.Gly60Arg)SNV Pathogenic 10701 rs267606973 X:48369724-48369724 X:48511336-48511336
4 PORCN NM_203473.3(PORCN):c.370C>T (p.Arg124Ter)SNV Pathogenic 10702 rs137852218 X:48370320-48370320 X:48511932-48511932
5 PORCN NM_203473.3(PORCN):c.1094G>A (p.Arg365Gln)SNV Pathogenic 29980 rs387906723 X:48374470-48374470 X:48516082-48516082
6 PORCN NM_203473.3(PORCN):c.268C>T (p.Arg90Ter)SNV Pathogenic 242872 rs1114167283 X:48369814-48369814 X:48511426-48511426
7 PORCN NM_203473.3(PORCN):c.1008+2T>ASNV Pathogenic 487811 rs1556975151 X:48374183-48374183 X:48515795-48515795
8 PORCN NM_203473.3(PORCN):c.1341del (p.Cys448fs)deletion Likely pathogenic 691998 X:48378834-48378834 X:48520446-48520446
9 PORCN NM_203473.3(PORCN):c.565T>C (p.Trp189Arg)SNV Likely pathogenic 374245 rs1057519006 X:48370986-48370986 X:48512598-48512598
10 PORCN NM_203473.3(PORCN):c.838_839delinsCCCCCAG (p.Thr280fs)indel Uncertain significance 487812 rs1556974808 X:48372920-48372921 X:48514532-48514533

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

73 (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

Copy number variations for Focal Dermal Hypoplasia from CNVD:

7
# CNVD ID Chromosome 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:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.03 WNT5A WNT3A WNT3 WLS SUFU SHH
2
Show member pathways
12.94 WNT5A WNT3A WNT3 SUFU PTCH2 PTCH1
3
Show member pathways
12.79 WNT5A WNT3A WNT3 AXIN2 ALB
4
Show member pathways
12.74 WNT5A WNT3A WNT3 WLS RSPO4 PORCN
5
Show member pathways
12.68 WNT5A WNT3A WNT3 SHH AXIN2
6 12.65 WNT5A WNT3A WNT3 SUFU SHH PTCH2
7
Show member pathways
12.47 SUFU SHH PTCH1 NOTUM
8
Show member pathways
12.37 WNT5A WNT3A WNT3 RSPO4 AXIN2
9
Show member pathways
12.24 WNT5A WNT3A WNT3 SHH PTCH2 PTCH1
10 12.16 WNT5A WNT3A WNT3 SHH PTCH1
11
Show member pathways
12.14 WNT5A WNT3A WNT3 AXIN2
12 12.09 WNT5A WNT3A WNT3 AXIN2
13 12.05 WNT5A WNT3A WNT3 AXIN2
14 11.99 WNT5A WNT3A WNT3 AXIN2
15 11.96 WNT5A WNT3A SHH ALB
16 11.86 WNT5A WNT3A WNT3
17
Show member pathways
11.86 WNT5A WNT3A WNT3 SUFU SHH RSPO4
18 11.76 WNT5A WNT3A SUFU SHH PTCH2 PTCH1
19 11.56 WNT5A WNT3A WNT3
20 11.44 WNT5A WNT3A SHH
21 11.4 SUFU SHH PTCH2 PTCH1
22 11.39 SUFU SHH PTCH1
23
Show member pathways
11.29 WNT5A WNT3A WNT3 WLS PORCN
24
Show member pathways
11.15 SHH PTCH2 PTCH1
25 11.1 WNT5A WNT3A WNT3
26
Show member pathways
10.96 WNT5A WNT3A
27
Show member pathways
10.84 SUFU SHH PTCH2 PTCH1
28 10.52 SHH PTCH1

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 endoplasmic reticulum lumen GO:0005788 9.43 WNT5A WNT3A WNT3 SHH NOTUM ALB
2 Golgi lumen GO:0005796 9.33 WNT5A WNT3A WNT3
3 endocytic vesicle membrane GO:0030666 9.02 WNT5A WNT3A WNT3 WLS PTCH1

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.15 WNT5A WNT3A WNT3 WLS SUFU SHH
2 axon guidance GO:0007411 9.93 WNT5A WNT3A WNT3 SHH
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.91 WNT5A SHH NOTUM AXIN2
4 neural tube closure GO:0001843 9.83 WNT5A SUFU PTCH1
5 anterior/posterior pattern specification GO:0009952 9.83 WNT5A WNT3A WNT3 SHH
6 cellular response to retinoic acid GO:0071300 9.82 WNT5A WNT3A WNT3
7 smoothened signaling pathway GO:0007224 9.82 SHH PTCH2 PTCH1
8 embryonic limb morphogenesis GO:0030326 9.8 WNT5A SHH PTCH1
9 somitogenesis GO:0001756 9.77 WNT5A WNT3A AXIN2
10 negative regulation of osteoblast differentiation GO:0045668 9.77 SUFU PTCH1 AXIN2
11 cellular protein localization GO:0034613 9.76 WNT5A WNT3A AXIN2
12 determination of left/right symmetry GO:0007368 9.76 WNT5A WNT3A SUFU SHH
13 skin development GO:0043588 9.74 SUFU SHH PTCH2
14 spinal cord motor neuron differentiation GO:0021522 9.69 SHH PTCH1
15 hindbrain development GO:0030902 9.69 WLS SHH
16 post-anal tail morphogenesis GO:0036342 9.69 WNT5A WNT3A
17 anatomical structure formation involved in morphogenesis GO:0048646 9.68 WNT3 SHH
18 anterior/posterior axis specification GO:0009948 9.68 WNT3 WLS
19 cell fate determination GO:0001709 9.68 PTCH2 PTCH1
20 digestive tract morphogenesis GO:0048546 9.68 WNT5A SHH
21 prostate gland development GO:0030850 9.67 SHH PTCH1
22 presynapse assembly GO:0099054 9.67 WNT5A WNT3A
23 secondary palate development GO:0062009 9.67 WNT5A WNT3A
24 negative regulation of axon extension involved in axon guidance GO:0048843 9.67 WNT5A WNT3A WNT3
25 heart looping GO:0001947 9.67 WNT5A WNT3A SUFU SHH
26 renal system development GO:0072001 9.66 SHH PTCH1
27 limb bud formation GO:0060174 9.66 WNT3 SHH
28 positive regulation of cell-cell adhesion mediated by cadherin GO:2000049 9.65 WNT5A WNT3A
29 negative regulation of smoothened signaling pathway GO:0045879 9.65 SUFU PTCH2 PTCH1
30 positive regulation of skeletal muscle tissue development GO:0048643 9.64 WNT3A SHH
31 positive regulation of epidermal cell differentiation GO:0045606 9.63 PTCH2 PTCH1
32 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 9.62 WNT5A WNT3A
33 cell fate commitment GO:0045165 9.62 WNT5A WNT3A WNT3 SHH
34 somite development GO:0061053 9.61 WNT5A SHH PTCH1
35 spinal cord dorsal/ventral patterning GO:0021513 9.58 SUFU SHH
36 dorsal/ventral neural tube patterning GO:0021904 9.58 WNT3A SHH PTCH1
37 hindgut morphogenesis GO:0007442 9.56 WNT5A SHH
38 positive regulation of Wnt signaling pathway GO:0030177 9.56 WNT3 WLS SHH RSPO4
39 negative regulation of dopaminergic neuron differentiation GO:1904339 9.55 WNT3A SHH
40 epidermal cell fate specification GO:0009957 9.54 PTCH2 PTCH1
41 positive regulation of collateral sprouting in absence of injury GO:0048697 9.51 WNT3A WNT3
42 midbrain development GO:0030901 9.46 WNT5A WNT3A WLS SHH
43 canonical Wnt signaling pathway GO:0060070 9.35 WNT5A WNT3A WNT3 SHH PORCN
44 Wnt signaling pathway GO:0016055 9.23 WNT5A WNT3A WNT3 WLS RSPO4 PORCN

Molecular functions related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 frizzled binding GO:0005109 9.5 WNT5A WNT3A WNT3
2 patched binding GO:0005113 9.37 SHH PTCH1
3 hedgehog family protein binding GO:0097108 9.26 PTCH2 PTCH1
4 hedgehog receptor activity GO:0008158 9.16 PTCH2 PTCH1
5 smoothened binding GO:0005119 8.96 PTCH2 PTCH1
6 receptor ligand activity GO:0048018 8.8 WNT5A WNT3A WNT3

Sources for Focal Dermal Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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