Cleft palate, and Retinoblastoma

Diseases related with Cleft palate and Retinoblastoma

In the following list you will find some of the most common rare diseases related to Cleft palate and Retinoblastoma that can help you solving undiagnosed cases.


Top matches:

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Low match COLORECTAL CANCER; CRC


Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013). Genetic Heterogeneity of Colorectal CancerMutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP ) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene (OMIM ), whereas HNPCC is caused by mutations in several genes, including MSH2 (OMIM ), MLH1 (OMIM ), PMS1 (OMIM ), PMS2 (OMIM ), MSH6 (OMIM ), TGFBR2 (OMIM ), and MLH3 (OMIM ). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis (OMIM ), which is caused by mutations in the MUTYH gene (OMIM ), and oligodontia-colorectal cancer syndrome (OMIM ), which is caused by mutations in the AXIN2 gene (OMIM ).The CHEK2 gene (OMIM ) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene (OMIM ) was identified in a patient with colorectal cancer.Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 (OMIM ) is conferred by mutation in the GALNT12 gene (OMIM ) on chromosome 9q22; CRCS2 (OMIM ) maps to chromosome 8q24; CRCS3 (OMIM ) is conferred by variation in the SMAD7 gene (OMIM ) on chromosome 18; CRCS4 (OMIM ) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (OMIM ); CRCS5 (OMIM ) maps to chromosome 10p14; CRCS6 (OMIM ) maps to chromosome 8q23; CRCS7 (OMIM ) maps to chromosome 11q23; CRCS8 (OMIM ) maps to chromosome 14q22; CRCS9 (OMIM ) maps to 16q22; CRCS10 (OMIM ) is conferred by mutation in the POLD1 gene (OMIM ) on chromosome 19q13; CRCS11 (OMIM ) maps to chromosome 20p12; and CRCS12 (OMIM ) is conferred by mutation in the POLE gene (OMIM ) on chromosome 12q24.Somatic mutations in many different genes, including KRAS (OMIM ), PIK3CA (OMIM ), BRAF (OMIM ), CTNNB1 (OMIM ), FGFR3 (OMIM ), AXIN2 (OMIM ), AKT1 (OMIM ), MCC (OMIM ), MYH11 (OMIM ), PARK2 (OMIM ), and RNF43 (OMIM ), have been identified in colorectal cancer.

COLORECTAL CANCER; CRC Is also known as colon cancer

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Oligodontia
  • Colon cancer
  • Colitis


SOURCES: OMIM MENDELIAN

More info about COLORECTAL CANCER; CRC

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Other less relevant matches:

Low match DENYS-DRASH SYNDROME; DDS


DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Low match HYPOTHALAMIC HAMARTOMAS


Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Low match STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Low match OSTEOGENIC SARCOMA


OSTEOGENIC SARCOMA Is also known as osteosarcoma|osrc

Related symptoms:

  • Short stature
  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Sarcoma
  • Osteosarcoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about OSTEOGENIC SARCOMA

Low match SMALL CELL LUNG CANCER


Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.

SMALL CELL LUNG CANCER Is also known as sclc|sccl|sclc1

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Subcutaneous nodule
  • Neoplasm of the lung
  • Retinoblastoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about SMALL CELL LUNG CANCER

Top 5 symptoms//phenotypes associated to Cleft palate and Retinoblastoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Micropenis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Retinoblastoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal heart morphology Cataract Cryptorchidism Embryonal neoplasm Ventricular septal defect Carcinoma

Rare Symptoms - Less than 30% cases


Hemihypertrophy Abdominal wall defect Diastasis recti Osteosarcoma Nevus flammeus Anterior creases of earlobe Leukocoria Auricular pit Leiomyosarcoma Hip dislocation Enlarged kidney Clinodactyly Hernia Abnormality of cardiovascular system morphology Short stature Short nose Micrognathia Neonatal hypoglycemia Visceromegaly Delayed speech and language development Weight loss Umbilical hernia Splenomegaly Hepatomegaly Large for gestational age Abnormal facial shape Strabismus Nystagmus Hypoglycemia Hydrocephalus Microcephaly Macroglossia Premature birth Nephroblastoma Sarcoma Abnormality of the outer ear Abnormality of the face Omphalocele Inguinal hernia Supernumerary nipple Overgrowth Abnormality of the genital system Congenital diaphragmatic hernia Amenorrhea Primary amenorrhea Abdominal distention Nephrotic syndrome Ambiguous genitalia Abnormality of the ureter Polyhydramnios Nephropathy Stage 5 chronic kidney disease Lethargy Pallor Recurrent infections Renal insufficiency Edema Respiratory insufficiency Fever Hypertension Autistic behavior Facial asymmetry Rhabdomyosarcoma Glomerulosclerosis Proteinuria Abnormal renal physiology Glomerulonephritis Psoriasiform dermatitis Sensorineural hearing impairment Myopia Retinopathy Corneal opacity Retinal detachment Abnormal vitreous humor morphology Hypospadias Patent ductus arteriosus Polydactyly Coarse facial features Apnea Renal cyst Neuroblastoma Glioma Syringomyelia Central hypotonia Abnormality of the vasculature Skin tags Abnormality of earlobe Tethered cord Prune belly Postauricular pit Abnormality of metabolism/homeostasis Chondrosarcoma Subcutaneous nodule Neoplasm of the lung Hypothalamic hamartoma Anterior hypopituitarism Focal segmental glomerulosclerosis Anuria Glomerulopathy Gonadal dysgenesis Aniridia Male pseudohermaphroditism Gonadoblastoma Seizures Ambiguous genitalia, male Diffuse mesangial sclerosis Ambiguous genitalia, female Uterus didelphys Low-grade fever Streak ovary True hermaphroditism Microglossia Ovarian gonadoblastoma Gonadal tissue inappropriate for external genitalia or chromosomal sex Depressed nasal bridge Macrocephaly Skeletal dysplasia Micromelia Pulmonary hypoplasia Postaxial hand polydactyly Renal dysplasia Short ribs Occipital encephalocele Hamartoma Median cleft lip Muscle weakness Absent septum pellucidum Uterine leiomyosarcoma Sebaceous gland carcinoma Vitreous hemorrhage Ocular pain Anisocoria Soft tissue sarcoma Malar rash Glioblastoma multiforme Fibrosarcoma Burkitt lymphoma Vitritis Histiocytoma Liposarcoma Neoplasm of the eye Buphthalmos Hyphema Ewing sarcoma Pineal cyst Iris neovascularization Pinealoma Retinal calcification Pineoblastoma Neuroblastic tumors Generalized hypotonia Growth delay Hypertelorism Inflammatory abnormality of the eye Astrocytoma Ptosis Leukemia Pain Anemia Visual impairment Blindness Vomiting Malar flattening Headache Visual loss Glaucoma Proptosis Skin rash Abnormality of skin pigmentation Acute monocytic leukemia Postural instability Lymphoma Anorexia Increased intracranial pressure Myelodysplasia Neurofibromas Cellulitis Acute myeloid leukemia Uveitis Chromosome breakage Anemia of inadequate production Muscular hypotonia Low-set ears Neoplasm of the stomach Aplasia/Hypoplasia of the thumb Single transverse palmar crease Webbed neck Hypotelorism Open mouth Wide anterior fontanel Finger clinodactyly Holoprosencephaly Abnormal dermatoglyphics Deep philtrum Patent foramen ovale Trigonocephaly Abnormality of the gastrointestinal tract Iris coloboma Thickened helices Anteverted ears Oligodontia Colon cancer Colitis Renal cell carcinoma Ulcerative colitis Endometrial carcinoma Colorectal polyposis Transitional cell carcinoma of the bladder Hereditary nonpolyposis colorectal carcinoma Everted lower lip vermilion Thick eyebrow Cognitive impairment Clinodactyly of the 5th finger High palate Epicanthus Brachydactyly Wide nasal bridge Intrauterine growth retardation Frontal bossing Short neck Hypoplasia of the corpus callosum Intellectual disability, severe Long philtrum Microphthalmia High forehead Bulbous nose Thin upper lip vermilion Hydronephrosis Muscular hypotonia of the trunk Protruding ear Wide mouth Coloboma Prominent nasal bridge Broad forehead Finger syndactyly Dolichocephaly Thin vermilion border Small cell lung carcinoma



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