TP63 gene related symptoms and diseases

All the information presented here about the TP63 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to TP63 gene

Symptoms // Phenotype	% Cases
Syndactyly	Common - Between 50% and 80% cases
Split hand	Common - Between 50% and 80% cases
Ectrodactyly	Common - Between 50% and 80% cases
Ectodermal dysplasia	Uncommon - Between 30% and 50% cases
Hypodontia	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TP63 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Split foot
Cleft palate
Hypohidrosis
Hypoplastic nipples
Oral cleft
Hearing impairment
Fine hair
Microdontia

And 271 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TP63 gene

Here you will find a list of rare diseases related to the TP63. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ADULT SYNDROME

Alternate names

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome, pigment anomaly-ectrodactyly-hypodontia syndrome, acro-dermato-ungual-lacrimal-tooth syndrome

Description

ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

Most common symptoms of ADULT SYNDROME

Brachydactyly
Wide nasal bridge
Abnormality of the dentition
Syndactyly
Midface retrusion

More info about ADULT SYNDROME

SOURCES: MESH OMIM ORPHANET

RAPP-HODGKIN SYNDROME; RHS

Alternate names

RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Most common symptoms of RAPP-HODGKIN SYNDROME; RHS

Short stature
Hearing impairment
Micrognathia
Cleft palate
Ptosis

More info about RAPP-HODGKIN SYNDROME; RHS

SOURCES: OMIM ORPHANET

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Alternate names

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome, aec syndrome

Most common symptoms of ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Short stature
Hearing impairment
Failure to thrive
Cleft palate
Pain

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

SOURCES: OMIM MESH

EEC SYNDROME

Alternate names

EEC SYNDROME Is also known as eec syndrome 3, ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Description

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

Most common symptoms of EEC SYNDROME

Intellectual disability
Short stature
Hearing impairment
Sensorineural hearing impairment
Cleft palate

More info about EEC SYNDROME

SOURCES: OMIM ORPHANET

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Alternate names

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec, eec syndrome 1

Most common symptoms of ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Intellectual disability
Hearing impairment
Microcephaly
Hypertelorism
Cleft palate

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

SOURCES: OMIM

BLADDER EXSTROPHY

Alternate names

BLADDER EXSTROPHY Is also known as classic exstrophy of the bladder

Description

Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.

Most common symptoms of BLADDER EXSTROPHY

Inguinal hernia
Umbilical hernia
Vesicoureteral reflux
Intestinal malrotation
Hypoplasia of penis

More info about BLADDER EXSTROPHY

SOURCES: ORPHANET

EXSTROPHY OF BLADDER

Description

Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (OMIM ). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.

Most common symptoms of EXSTROPHY OF BLADDER

Cryptorchidism
Recurrent infections
Inguinal hernia
Umbilical hernia
Anal atresia

More info about EXSTROPHY OF BLADDER

SOURCES: OMIM ORPHANET

ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION

Alternate names

ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION Is also known as shfm, ectrodactyly, split hand foot malformation

Description

Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.

Most common symptoms of ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION

Sensorineural hearing impairment
Finger syndactyly
Split hand
Oligodactyly
Aniridia

More info about ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION

SOURCES: ORPHANET

SPLIT-HAND/FOOT MALFORMATION 4; SHFM4

Description

Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM4 have been found to have mental retardation, ectodermal findings, and orofacial clefting (Elliott and Evans, 2006).For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (OMIM ).

Most common symptoms of SPLIT-HAND/FOOT MALFORMATION 4; SHFM4

Intellectual disability
Syndactyly
Split hand
Abnormality of the face
Triphalangeal thumb

More info about SPLIT-HAND/FOOT MALFORMATION 4; SHFM4

SOURCES: OMIM

LIMB-MAMMARY SYNDROME

Alternate names

LIMB-MAMMARY SYNDROME Is also known as lms

Description

Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

Most common symptoms of LIMB-MAMMARY SYNDROME

Cleft palate
Syndactyly
Hypogonadism
Camptodactyly
Hypodontia

More info about LIMB-MAMMARY SYNDROME

SOURCES: ORPHANET OMIM MESH

CLEFT LIP AND ALVEOLUS

Description

Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.

More info about CLEFT LIP AND ALVEOLUS

SOURCES: ORPHANET

ISOLATED CLEFT LIP

Description

Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.

More info about ISOLATED CLEFT LIP

SOURCES: ORPHANET

CLEFT LIP/PALATE

Alternate names

CLEFT LIP/PALATE Is also known as flp, cleft lip-alveolus-palate syndrome, alveolar cleft lip and palate, cleft lip and palate

Description

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.

More info about CLEFT LIP/PALATE

SOURCES: ORPHANET

Search interest in TP63

Potential gene panels for TP63 gene

P63-related disorders Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the TP63 gene.

TP63 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TP63 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to TP63 gene

ADULT SYNDROME

Alternate names

Description

Most common symptoms of ADULT SYNDROME

RAPP-HODGKIN SYNDROME; RHS

Alternate names

Most common symptoms of RAPP-HODGKIN SYNDROME; RHS

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Alternate names

Most common symptoms of ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

EEC SYNDROME

Alternate names

Description

Most common symptoms of EEC SYNDROME

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Alternate names

Most common symptoms of ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

BLADDER EXSTROPHY

Alternate names

Description

Most common symptoms of BLADDER EXSTROPHY

EXSTROPHY OF BLADDER

Description

Most common symptoms of EXSTROPHY OF BLADDER

ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION

Alternate names

Description

Most common symptoms of ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION

SPLIT-HAND/FOOT MALFORMATION 4; SHFM4

Description

Most common symptoms of SPLIT-HAND/FOOT MALFORMATION 4; SHFM4

LIMB-MAMMARY SYNDROME

Alternate names

Description

Most common symptoms of LIMB-MAMMARY SYNDROME

CLEFT LIP AND ALVEOLUS

Description

ISOLATED CLEFT LIP

Description

CLEFT LIP/PALATE

Alternate names

Description

Search interest in TP63

Potential gene panels for TP63 gene

P63-related disorders Panel

TP63 Sequencing Panel

Hypospadias Sequencing Panel Panel

TP63 Panel

TP63. Complete sequencing Panel

TP63. Sequencing of the exon 3 Panel

TP63. Sequencing of the exons 13 and 14 Panel

TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS Panel

TP63. Sequencing of the exons 6,7, 8 and 9 Panel

TP63. Complete sequencing Panel

Ectodermal dysplasia syndrome (sequence analysis of TP63 gene) Panel

Rapp-Hodgkin syndrome (sequence analysis of TP63 gene) Panel

Ectodermal dysplasia and ectrodactyly (deletion/duplication analysis of TP63 gene) Panel

Ectodermal dysplasia and ectrodactyly (deletion/duplication analysis of TP63 gene) Panel

Hypospadias Sequencing Panel with CNV Detection Panel

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

TP63-Related Disorders via TP63 Gene Sequencing with CNV Detection Panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

Cleft lip, cleft palate and related disorders NGS panel Panel

Cleft lip, cleft palate and related disorders Deletion / Duplication panel Panel

Cleft lip, cleft palate and related disorders Comprehensive panel Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Rapp-Hodgkin syndrome Panel

Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Panel

ADULT syndrome, split hand-foot malformation Panel

Ankyloblepharon-ectodermal defects-cleft lip/palate Panel

Limb-mammary syndrome Panel

AllNeuro panel Panel