Delayed speech and language development, and Hepatitis

Diseases related with Delayed speech and language development and Hepatitis

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Hepatitis that can help you solving undiagnosed cases.


Top matches:

Low match SHAHEEN SYNDROME; SHNS

Shaheen syndrome is an autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013).

SHAHEEN SYNDROME; SHNS Is also known as ;shaheen syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Delayed speech and language development
  • Fever


SOURCES: ORPHANET OMIM MONDO UMLS

More info about SHAHEEN SYNDROME; SHNS

Low match PROLIDASE DEFICIENCY

Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008).

PROLIDASE DEFICIENCY Is also known as ;hyperimidodipeptiduria

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: GARD MONDO ORPHANET MESH OMIM NCIT SCTID

More info about PROLIDASE DEFICIENCY

Low match AGAMMAGLOBULINEMIA, X-LINKED; XLA

X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (Rawlings and Witte, 1994). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see {300310}. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (Lopez Granados et al., 2002; Ferrari et al., 2007). See agammaglobulinemia-1 (AGM1 ) for a discussion of genetic heterogeneity of the autosomal forms of agammaglobulinemia.

AGAMMAGLOBULINEMIA, X-LINKED; XLA Is also known as bruton-type agammaglobulinemia, agammaglobulinemia, x-linked, type 1;agmx1, immunodeficiency 1;imd1;btk-deficiency; bruton type agammaglobulinemia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: SCTID OMIM ORPHANET

More info about AGAMMAGLOBULINEMIA, X-LINKED; XLA

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Other less relevant matches:

Low match PHELAN-MCDERMID SYNDROME; PHMDS

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome;22q13 deletion; phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: UMLS MONDO OMIM ORPHANET GARD SCTID MESH

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Low match TYROSINEMIA, TYPE III; TYRSN3

Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000).

TYROSINEMIA, TYPE III; TYRSN3 Is also known as 4-hydroxyphenylpyruvic acid oxidase deficiency, 4-hydroxyphenylpyruvate dioxygenase deficiency;tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency; tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency; tyrosinemia due to hpd deficiency; tyrosinemia type iii

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia


SOURCES: MONDO DOID GARD SCTID ORPHANET OMIM

More info about TYROSINEMIA, TYPE III; TYRSN3

Low match HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.

HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY Is also known as ;hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MONDO UMLS SCTID GARD DOID OMIM

More info about HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

Low match CITRULLINEMIA, TYPE II, NEONATAL-ONSET

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most patients show spontaneous improvement by 1 year of age. However, some patients may have a progressive course with continued failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some may develop chronic or fatal liver disease (summary by Song et al., 2011).

CITRULLINEMIA, TYPE II, NEONATAL-ONSET Is also known as citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia, cholestasis, neonatal intrahepatic, caused by citrin deficiency;niccd;niccd; neonatal intrahepatic cholestasis caused by citrin deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Pica
  • Growth delay
  • Failure to thrive


SOURCES: MESH ORPHANET GARD OMIM SCTID MONDO UMLS

More info about CITRULLINEMIA, TYPE II, NEONATAL-ONSET

Low match AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME

AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME Is also known as evans syndrome associated with primary immunodeficiency; tppii deficiency; tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; triangle disease; tripeptidyl-peptidase ii deficiency

Related symptoms:

  • Splenomegaly
  • Respiratory tract infection
  • Autoimmunity
  • Lymphadenopathy
  • Stroke


SOURCES: ORPHANET

More info about AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME

Low match HEPATOCELLULAR CARCINOMA

Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).

HEPATOCELLULAR CARCINOMA Is also known as hcc, cancer, hepatocellular, liver cancer, liver cell carcinoma;lcc, hepatoma;

Related symptoms:

  • Autosomal dominant inheritance
  • Microcephaly
  • Motor delay
  • Cryptorchidism
  • Milia


SOURCES: ORPHANET OMIM ICD10

More info about HEPATOCELLULAR CARCINOMA

Low match ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: UMLS MONDO OMIM

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Hepatitis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Hepatitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Generalized hypotonia Hearing impairment Intellectual disability, mild Obesity Hypertyrosinemia Giant cell hepatitis Abnormal facial shape

Rare Symptoms - Less than 30% cases


Hepatic failure Cognitive impairment Ataxia Skin rash Pica Seizures Cholestasis Recurrent pneumonia Autoimmunity Nevus Sinusitis Lymphedema Skin ulcer Hypermethioninemia Jaundice Abnormal lung morphology Cirrhosis Cellulitis Systemic lupus erythematosus Osteomyelitis Neoplasm Tics Prolonged neonatal jaundice Lymphopenia Fever Hyperkeratosis Carious teeth Hypohidrosis Respiratory tract infection Immunodeficiency Recurrent infections Milia Anemia Ptosis Abnormality of the nervous system Abnormality of the dentition Diarrhea Splenomegaly Thrombocytopenia Decreased liver function Ventricular septal defect Abnormality of the liver Concave nasal ridge Polycystic kidney dysplasia Periorbital fullness Broad-based gait Heat intolerance Arachnoid cyst Delayed CNS myelination Hypoplastic toenails Bruxism Palpebral edema 2-3 toe syndactyly Abnormality of the periventricular white matter Impaired pain sensation Poor eye contact Short chin Tall stature Large hands Dolichocephaly Thick eyebrow Bulbous nose Hypermetropia Nausea and vomiting Facial asymmetry Autistic behavior Deeply set eye High, narrow palate Abnormality of the pinna Protruding ear Sporadic Aggressive behavior Neonatal hypotonia Hydronephrosis Unsteady gait Vesicoureteral reflux Abnormality of the outer ear Long eyelashes Recurrent skin infections Prominent supraorbital ridges Recurrent upper respiratory tract infections Sacral dimple Pointed chin Accelerated skeletal maturation Dental crowding Sleep disturbance Renal dysplasia Cortical visual impairment Dental malocclusion Febrile seizures Full cheeks Thick vermilion border Toenail dysplasia 4-Hydroxyphenylacetic aciduria Episodic vomiting Low-set ears Hepatic steatosis Type II diabetes mellitus Somatic mutation Thrombocytosis Hepatocellular carcinoma Neoplasm of the liver Micronodular cirrhosis Chronic hepatitis Hepatoblastoma Embryonal neoplasm Chronic infection Viral hepatitis Subacute progressive viral hepatitis Elevated hepatic transaminase Heterogeneous Arthrogryposis multiplex congenita Ichthyosis Metabolic acidosis Nephropathy Hip dysplasia Sloping forehead Nephrocalcinosis Lissencephaly Renal tubular acidosis Conjugated hyperbilirubinemia Right ventricular hypertrophy Cholestatic liver disease Talipes calcaneovalgus Carcinoma Cryptorchidism Cerebellar cortical atrophy Hypercholesterolemia Hyperorality Tongue thrusting Hair-pulling Fulminant hepatic failure Recurrent pyelonephritis Intellectual disability, severe Drowsiness 4-Hydroxyphenylpyruvic aciduria Umbilical hernia Cardiomyopathy Poor head control Growth delay Hypertriglyceridemia Hyperbilirubinemia Autosomal dominant inheritance Abnormality of lipid metabolism Hypoproteinemia Intrahepatic cholestasis Decreased HDL cholesterol concentration Hypergalactosemia Elevated plasma citrulline Lymphadenopathy Stroke Hemolytic anemia Recurrent otitis media Hemiparesis Autoimmune hemolytic anemia Autoimmune thrombocytopenia Moderate global developmental delay Intellectual disability, moderate Feeding difficulties EEG abnormality Petechiae Asthma Abnormality of retinal pigmentation Low anterior hairline Generalized hirsutism Bilateral single transverse palmar creases Inflammatory abnormality of the skin Abnormality of the fingernails Reduced bone mineral density Psoriasiform dermatitis Abnormality of the immune system Abnormality of the hip bone Aplasia/Hypoplasia of the skin Elevated erythrocyte sedimentation rate Hypoplasia of the zygomatic bone Cutaneous photosensitivity Myelitis Chronic lung disease White forelock Abnormality of the middle ear Poliosis Facial hirsutism Diffuse telangiectasia Crusting erythematous dermatitis Recurrent cystitis Short stature Sensorineural hearing impairment Myopathy Fatigue Thin skin Depressed nasal ridge Pneumonia Short nose Congenital onset Ectodermal dysplasia Hypoplasia of dental enamel Postnatal microcephaly Palmoplantar hyperkeratosis Anhidrosis Hypertelorism Micrognathia Depressed nasal bridge Visual impairment Hepatomegaly Downslanted palpebral fissures Edema Abnormality of metabolism/homeostasis Low posterior hairline Recurrent respiratory infections Erythema Prominent forehead Proptosis Hepatosplenomegaly Pruritus Genu valgum Papule Dry skin Arachnodactyly Palmoplantar keratoderma Hirsutism Eczema Convex nasal ridge Encephalopathy Dilatation Gastroesophageal reflux Gait disturbance Epididymitis Prostatitis Abnormality of the tonsils Lymph node hypoplasia Enteroviral dermatomyositis syndrome Enteroviral hepatitis Strabismus Epicanthus High palate Pain Wide nasal bridge Macrocephaly Ventriculomegaly Atrial septal defect Recurrent cutaneous abscess formation Long philtrum Malar flattening Clinodactyly of the 5th finger Hyporeflexia Patent ductus arteriosus Agenesis of corpus callosum Constipation Absent speech Oxycephaly Abnormality of the genital system Macrotia Hyperactivity Autism Septic arthritis Pyoderma Depressivity Recurrent urinary tract infections X-linked recessive inheritance Rod-cone dystrophy Alopecia Dementia Arthritis Weight loss Retinopathy Malabsorption Neutropenia Sepsis Decreased antibody level in blood Otitis media Chronic diarrhea Meningitis Thymoma Recurrent bacterial infections Telangiectasia Conjunctivitis Hypocalcemia Hypopigmented skin patches Encephalitis Chronic otitis media Rheumatoid arthritis Myositis Glossoptosis Agammaglobulinemia Myelopathy Cor pulmonale Abnormality of the lymphatic system Nephrogenic diabetes insipidus



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